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Gene: Grhl3 MGI:2655333

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Gene Summary

Name:
grainyhead like transcription factor 3
Synonyms:
ct,  Som,  Get1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.66×10-05
increased circulating glucose level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 2.76×10-07
increased circulating calcium level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 1.60×10-05
decreased circulating triglyceride level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 7.71×10-06
decreased blood urea nitrogen level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.92×10-06
abnormal eye morphology Grhl3tm1a(EUCOMM)Wtsi HET Early adult 1.22×10-05
increased startle reflex Grhl3tm1a(EUCOMM)Wtsi HET   Early adult 4.48×10-06
decreased circulating alkaline phosphatase level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.28×10-10
increased circulating phosphate level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.67×10-07
increased circulating amylase level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 4.58×10-05
abnormal locomotor activation Grhl3tm1a(EUCOMM)Wtsi HET Early adult 9.77×10-06

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Grhl3 mutations

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

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

The table below shows human diseases associated to Grhl3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772

The table below shows human diseases predicted to be associated to Grhl3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Erythema, Scaling skin OMIM:617571
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Microcephaly ORPHA:293
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Psoriasis 2
Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin OMIM:602723
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis OMIM:113800
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:615598
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:617526
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:620148
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Palm... ORPHA:530838
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Peeling Skin Syndrome 3
Erythema, White scaling skin OMIM:616265
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:101900
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin OMIM:618084
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... OMIM:617967
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orth... OMIM:612281
Anencephaly 2
Anencephaly OMIM:619452
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Diprosopus
Anencephaly ORPHA:1681
Ichthyosis, Annular Epidermolytic, 1
Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Scaling skin, Orthokeratosis OMIM:607602
Schisis Association
Encephalocele, Anencephaly, Spina bifida, Microcephaly ORPHA:63862
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, White scaling skin OMIM:604777
Caudal Duplication
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Ver... ORPHA:1756
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio ORPHA:94086
Nevus Comedonicus Syndrome
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida ORPHA:64754
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Acral Peeling Skin Syndrome
Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... OMIM:611134
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Honeycomb palmoplantar hyperkerat... ORPHA:79395
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:94090
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Microcephaly OMIM:601355
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis ORPHA:735
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scolio... ORPHA:2345
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling... OMIM:616295
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/... ORPHA:1908
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Ho... ORPHA:2570
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis OMIM:613943
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Cutis laxa, Scaling skin, Dry skin, Generalized hyperkeratosis ORPHA:2269
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Bathing Suit Ichthyosis
Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scal... ORPHA:100976
Microhydranencephaly
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... OMIM:605013
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Bazex Syndrome
Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Scaling skin ORPHA:166113
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:603194
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Distal Deletion 13Q
Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence... ORPHA:1590
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration OMIM:615883
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Idiopathic Localized Lipodystrophy
Erythema, Scaling skin ORPHA:90158
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Atrophoderma Vermiculata
Abnormal epidermal morphology, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Bleeding with min... ORPHA:79503
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic seizures ORPHA:36913
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:148600
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... OMIM:225790
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Ulerythema Ophryogenesis
Acne, Miscarriage, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse l... ORPHA:3406
Hypotrichosis Simplex Of The Scalp
Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin ORPHA:90368
Lupus Erythematosus Tumidus
Scaling skin ORPHA:90283
Mal De Meleda
Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Epidermal acanthosis, Palmoplantar kerato... ORPHA:87503
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:133200
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin OMIM:612952
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper... OMIM:300918
Sprengel Deformity
Cleft palate ORPHA:3181
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hand tremor, Gait disturbance, Hyperglycemia, Mildly elevated creatine kinase OMIM:604484
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar... ORPHA:2199
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Hyperkeratosis, Erythema, Dry skin, Scaling skin OMIM:614457
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:614175
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Parc Syndrome
Cleft palate OMIM:600331
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Decreased circulating ceruloplasmin concentrati... ORPHA:48818
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Congestive heart... OMIM:605676
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Brachyolmia Type 2
Platyspondyly OMIM:613678
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Irregular vertebral endplates, Platyspondyly, Schmorl's node OMIM:604864
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Pyknoachondrogenesis
Stillbirth OMIM:265880
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology, Hyperkeratotic papule ORPHA:79147
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis, Psoriasiform lesion, Scaling skin ORPHA:284426
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Spina bifida ORPHA:1104
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Ulcerative ... ORPHA:555905
Joubert Syndrome 15
Exencephaly OMIM:614464
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,... OMIM:239000
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia OMIM:612526
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Chilblain Lupus 1
Skin ulcer OMIM:610448
Hydrolethalus
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Absent septum pellucidum ORPHA:2189
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis OMIM:610227
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer ORPHA:312
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Edema, Malabsorption, Abdominal pain, Di... ORPHA:2070
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Ichthyosis With Confetti
Scaling skin, Palmoplantar hyperkeratosis OMIM:609165
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Syr... ORPHA:63259
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... OMIM:615508
Centrifugal Lipodystrophy
Erythema, Scaling skin ORPHA:90156
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Optic disc pallor, Hyperglycemia, Ataxia OMIM:618970
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis OMIM:612847
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Non-Functioning Paraganglioma
Tremor, Hypertensive retinopathy, Hypercalcemia ORPHA:94080
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia OMIM:236500
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus OMIM:211900
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Palmoplantar keratoderma, Scaling skin, Dry skin OMIM:618373
Darier-White Disease
Enlargement of parotid gland, Pruritus, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Sacral dimple, Spina bifida, Abnormal form of the vertebral bodies ORPHA:1327
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis OMIM:616583
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Pemphigus Foliaceus
Skin vesicle, Erythema, Scaling skin, Acantholysis ORPHA:79481
Fountain Syndrome
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta ORPHA:3219
Cerebrocostomandibular Syndrome
Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocele, Meningocele, Porencephalic ... ORPHA:1393
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Edema, Acantholysis ORPHA:455
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:94089
Morquio Syndrome C
Platyspondyly OMIM:252300
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expression, Aggressive b... OMIM:247100
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Naxos Disease
Subungual hyperkeratosis, Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac... OMIM:601214
Kenny-Caffey Syndrome, Type 2
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia OMIM:127000
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar ke... OMIM:148700
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Dry skin, Scaling skin OMIM:609180
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Abnormal bleeding, Pruritus, Malabsorption ORPHA:79301
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, Scoliosis OMIM:184400
Second Metatarsal-Metacarpal Syndrome
Platyspondyly OMIM:269630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... OMIM:615287
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608636
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, White eyebrow, Aganglionic megacolon, Spina bifida, Synophrys, Meni... ORPHA:894
Masa Syndrome
Kyphosis, Hydrocephalus, Hyperlordosis OMIM:303350
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormality of the orbital region... ORPHA:251992
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Autosomal Dominant Hypocalcemia
Writer's cramp, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Horner syndrome OMIM:106070
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Isolated Hemihyperplasia
Myelomeningocele, Scoliosis ORPHA:2128
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Peeling Skin Syndrome 1
Scaling skin OMIM:270300
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype... ORPHA:94093
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D... ORPHA:263665
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degenera... OMIM:520000
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies OMIM:613982
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... OMIM:271630
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology ORPHA:163665
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Hyperkeratosis, ... OMIM:602540
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Cole Disease
Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratode... OMIM:615522
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hypophosphatasia
Hypercalcemia ORPHA:436
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Acute Radiation Syndrome
Hyperkeratosis, Scaling skin, Skin ulcer ORPHA:454831
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Death in childhood, Feeding difficulties OMIM:620368
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Vulvovaginal Gingival Syndrome
Parakeratosis, Erythema, Epidermal acanthosis ORPHA:83453
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Epidermal acanthosis OMIM:615022
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Buerger Disease
Skin ulcer ORPHA:36258
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Cleft palate, Impaired myocardial contractility, ... ORPHA:158687
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip OMIM:600251
Cutaneous Mastocytoma
Erythema, Scaling skin ORPHA:79455
Paternal Uniparental Disomy Of Chromosome 1
Macular dystrophy, Abnormal retinal morphology on macular OCT, Hypercalcemia, Increased blood ure... ORPHA:251004
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Classic Mycosis Fungoides
Hyperkeratosis, Erythema, Dry skin, Skin ulcer ORPHA:2584
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal ma... OMIM:243150
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Pruritus, Pustule, Faci... ORPHA:293173
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... ORPHA:85446
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis ORPHA:79151
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Lichen Planopilaris
Pruritus, Hyperkeratosis, Pterygium, Abnormal intestine morphology ORPHA:525
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Aceruloplasminemia
Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc... OMIM:604290
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Abnormal vertebral morphology, Spina bifida occulta at S1 OMIM:102510
Winchester Syndrome
Kyphosis OMIM:277950
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperk... OMIM:619208
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia... OMIM:616546
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia ORPHA:163693
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypertensive retinopathy, Hypercalcemia OMIM:171420
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Abnormal conjunctiva morphology, Gastrointestinal infarctions, Const... OMIM:602248
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Diaphanospondylodysostosis
Myelomeningocele, Abnormal vertebral segmentation and fusion, Absent or minimally ossified verteb... ORPHA:66637
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Pachydermoperiostosis
Gastrointestinal hemorrhage, Acne, Peptic ulcer, Edema, Malabsorption, Seborrheic dermatitis, Joi... ORPHA:2796
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Epidermal acanthosis, Palmoplantar hyperkeratosis ORPHA:38
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate OMIM:201550
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Tethered cord, Myelomeningocele, Meni... OMIM:600145
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Entropion, Sudden cardia... ORPHA:537
Familial Hypofibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:98881
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Spina bifida ORPHA:1120
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma OMIM:615024
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microcephaly, Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:619148
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum ORPHA:99742
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Entropion, Myocardial in... ORPHA:36426
Parietal Foramina 1
Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo... ORPHA:99828
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate ORPHA:217
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:79444
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Reynolds Syndrome
Skin rash, Telangiectasia of the skin, Pruritus, Abnormal gastric mucosa morphology, Xerostomia, ... ORPHA:779
Fryns Microphthalmia Syndrome
Neural tube defect, Abnormality of the vertebral column OMIM:600776
Warty Dyskeratoma
Abnormal bleeding, Neoplasm of the tongue, Acantholysis ORPHA:69745
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Acantholysis OMIM:609638
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypercalcemia, Hypophosphatemia OMIM:156400
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93325
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Vertebral wedging OMIM:617719
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Maculopapular exanthema, Skin rash, Abdominal pain, Periorbital edem... OMIM:142680
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Hydrocephalus, Abnormal form of the vertebral ... ORPHA:2635
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Chilblain Lupus
Hyperkeratosis, Skin ulcer ORPHA:90280
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:231200
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion OMIM:616898
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho... OMIM:611890
Linear Verrucous Nevus Syndrome
Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphatemia ORPHA:2611
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Tethered cord, Kyphoscoliosis, Hype... ORPHA:573278
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Scoli... OMIM:603546
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hy... ORPHA:199299
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy ORPHA:103910
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Psoriasiform lesion ORPHA:163525
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Intrauterine growth retardation, Kyphosis OMIM:618237
Diabetic Embryopathy
Abnormal sacrum morphology, Vertebral segmentation defect, Hydrocephalus, Spinal dysraphism ORPHA:1926
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Chromosome 17P13.1 Deletion Syndrome
Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, High, narrow palate, Synophrys, Hyd... OMIM:613776
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Pseudohypoparathyroidism Type 1A
Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dyst... ORPHA:79443
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Scoliosis, Spina bifida, Short neck OMIM:616038
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... ORPHA:240094
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Fetal Akinesia Deformation Sequence 4
Neonatal death, Kyphosis, Short neck OMIM:618393
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Malabsorption, Abdominal pai... ORPHA:79430
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis ORPHA:85174
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Akinesia, Optic neuropathy, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy... OMIM:618249
Cystinosis
Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabetes mellitus, Retinopathy ORPHA:213
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Blepharitis ORPHA:254478
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Vacterl/Vater Association
Occipital encephalocele, Anencephaly ORPHA:887
Trisomy 20P
Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation... ORPHA:261318
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... ORPHA:464321
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... ORPHA:391411
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Spina bifida occulta, Bruising susceptibility ORPHA:230839
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia ORPHA:97289
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Hypertensive retinopathy, Hypercalcemia ORPHA:276621
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardation OMIM:234250
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Dracunculiasis
Skin ulcer ORPHA:231
Lymphatic Malformation 4
Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hemivertebrae, Abnormal ... ORPHA:3412
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, In... ORPHA:95409
Typhoid
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons... ORPHA:99745
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hydrocephalus, Kyphosis, Scoliosis ORPHA:2181
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper... ORPHA:35909
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Butterfly vertebrae, Spinal dysraphism OMIM:617660
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... ORPHA:2088
Trisomy 18
Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencep... ORPHA:3380
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... OMIM:620014
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis OMIM:618728
Parkinson Disease 17
Tremor, Resting tremor, Akinesia OMIM:614203
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Glycosuria, Hypophosphatemia OMIM:618913
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis OMIM:301900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Dysphagia OMIM:616029
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Optic atrophy OMIM:101800
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis OMIM:613102
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis OMIM:129200
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Cleft Soft Palate
Cleft soft palate OMIM:119570
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Abnormal stomach morphology ORPHA:281090
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Mednik Syndrome
Hyperkeratosis, Abnormal intestine morphology ORPHA:171851
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Edema, Diarrhea, Protein-losing enteropathy, Vo... ORPHA:79319
Sandhoff Disease
Kyphosis ORPHA:796
Moderate Hemophilia A
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ... ORPHA:169805
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Short neck ORPHA:3456
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concen... ORPHA:157215
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Fibrous Dysplasia Of Bone
Diabetes mellitus, Antalgic gait, Hypercalcemia, Increased circulating cortisol level, Difficulty... ORPHA:249
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... ORPHA:2369
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Malabsorption, Pruritus, Portal h... ORPHA:98850
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Platyspondyly OMIM:609324
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait OMIM:619911
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... OMIM:148500
Limited Cutaneous Systemic Sclerosis
Skin ulcer, Dysphagia ORPHA:220402
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Hypercalcemia, Gait ataxia ORPHA:476126
Dysspondyloenchondromatosis
Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospondyly ORPHA:85198
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Lymphedema, Abdominal pain... ORPHA:1414
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process ORPHA:85172
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Jacobsen Syndrome
Death in infancy, Epicanthus, Ectropion, Intestinal malrotation, Spina bifida, Eczema, Feeding di... ORPHA:2308
Monosomy 13Q34
Insulin resistance, Hypercalcemia ORPHA:96168
Spinocerebellar Ataxia 21
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... OMIM:607454
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Inflammatory abnormality of the skin, Sparse eyelashes, Increased circulating f... OMIM:610768
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Hypophosphatemia OMIM:308990
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis, Kyphoscoliosis OMIM:618339
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adeno... ORPHA:329971
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria OMIM:616026
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Dilated cardiomyopathy, Ventricular tachycardia, Hyperkeratosis, Palmopl... OMIM:615821
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... OMIM:601216
Bamforth-Lazarus Syndrome
Cleft palate OMIM:241850
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Akinesia, Gait ataxia, Macular degeneration, Dysdiadochokinesis, Shufflin... ORPHA:247234
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Spinocerebellar Ataxia Type 21
Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Pruritus, Esophageal varix, ... ORPHA:64743
Mpdu1-Cdg
Scaling skin ORPHA:79323
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Scoliosis, Spinal dysraphism OMIM:612918
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... ORPHA:466650
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Meningocele, Abnormal form of the ... ORPHA:2311
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly OMIM:156510
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... ORPHA:98878
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia ORPHA:29072
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Spina bifida, Hydrocephalus, Hemivertebrae, Vertebral wedging, ... OMIM:109400
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Irida Syndrome
Hyperkeratosis, Abnormal intestine morphology ORPHA:209981
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Epicanthus, Edema, Polyhydramnios, Per... ORPHA:363705
Acrogeria
Excessive wrinkled skin, Skin ulcer ORPHA:2500
Microphthalmia, Syndromic 8
Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft, Cleft upper lip OMIM:601349
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... ORPHA:90308
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypoglycemia, Hypercalcemia OMIM:131100
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth, Abnormality of the vertebral column, Abnormal ver... OMIM:276950
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, In... ORPHA:85138
Diffuse Cutaneous Mastocytosis
Scaling skin ORPHA:79456
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Corticobasal Syndrome
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia ORPHA:454887
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Sjögren-Larsson Syndrome
Hyperkeratosis, Kyphosis, Scoliosis ORPHA:816
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... ORPHA:465
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pheochromocytoma
Hypertensive retinopathy, Hypercalcemia OMIM:171300
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Epidermal acanthosis OMIM:615023
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Orthokeratosis, Ectropion OMIM:173200
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkeratosis, Blepharitis OMIM:602400
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100082
Blepharocheilodontic Syndrome 1
Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Distichiasis, Anal ... OMIM:119580
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Milroy Disease
Epicanthus, Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas ORPHA:79452
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:600081
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Recon Progeroid Syndrome
Dry skin, Scaling skin OMIM:620370
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Zygomycosis
Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Chemosis, Nausea, Unusu... ORPHA:73263
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... ORPHA:157794
Mosaic Trisomy 9
Intestinal malrotation, Spina bifida, Polyhydramnios, Hydrops fetalis, Cleft palate, Upslanted pa... ORPHA:99776
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abnormal bleeding, Abdominal pain, High, narrow palate, Rectal prola... ORPHA:79076
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Basilar Impression, Primary
Syringomyelia, Abnormal cervical myelogram, Kyphoscoliosis, Short neck OMIM:109500
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting ORPHA:543
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida, Supernumerary vertebrae OMIM:193500
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Gastritis, Skin rash, Myocard... ORPHA:809
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me... ORPHA:99147
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... ORPHA:853
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Malabsorption, Anorexia, Abdomi... ORPHA:3452
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Koolen-De Vries Syndrome Due To A Point Mutation
Epicanthus, Eczema, Spina bifida, Nasogastric tube feeding in infancy, Hydrocephalus, Intraventri... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Epicanthus, Eczema, Spina bifida, Nasogastric tube feeding in infancy, Hydrocephalus, Intraventri... ORPHA:363958
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Kyphosis, Scoliosis ORPHA:1883
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Scaling skin, Dry skin, Facial erythema ORPHA:1010
Microtia-Anotia
Holoprosencephaly OMIM:600674
Phakomatosis Pigmentokeratotica
Scoliosis, Spina bifida ORPHA:2874
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Meningocele ORPHA:1759
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... ORPHA:2929
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly OMIM:617974
Meckel Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla... ORPHA:564
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal eyelid morphology, Feeding difficulties in infancy, Anorectal anomaly, G... ORPHA:567
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly ORPHA:93283
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Scoliosis, Spina bifida OMIM:161200
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... ORPHA:99642
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Epicanthus, Congestive heart failure, Arterial rupture, Follicular h... OMIM:225400
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... OMIM:264180
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Mycetoma
Back pain, Recurrent bacterial skin infections, Abnormal form of the vertebral bodies, Cobbleston... ORPHA:2583
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly ORPHA:168555
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Secretory diarrhea,... OMIM:618183
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Cloacal Exstrophy
Myelomeningocele, Hemivertebrae, Spina bifida ORPHA:93929
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly OMIM:271600
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Hydrocephalus, Esophageal varix,... ORPHA:974
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho... OMIM:241530
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... OMIM:227810
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Necrobiosis Lipoidica
Erythema, Skin ulcer ORPHA:542592
Immunodeficiency 58
Psoriasiform lesion, Scaling skin, Dysphagia OMIM:618131
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... OMIM:602557
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:181600
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... OMIM:601678
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:264700
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:93160
Intellectual Developmental Disorder, Autosomal Dominant 26
Umbilical hernia, Kyphosis, Scoliosis, Intrauterine growth retardation OMIM:615834
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Hypophosphatemia OMIM:134600
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Ulnar Hemimelia
Butterfly vertebrae, Scoliosis, Spinal dysraphism ORPHA:93320
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... ORPHA:93352
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Congenital Myopathy 12
Abnormal circulating creatine kinase concentration, Akinesia OMIM:612540
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Neu-Laxova Syndrome
Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnormal cortical gyration, Micro... ORPHA:2671
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Intracranial hemorrhage, Inflammation of the large intestine, Con... ORPHA:906
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Maculopapular exanthema, Poor appetite, Abdominal... ORPHA:319218
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Skin rash, Epistaxis, Abdominal p... ORPHA:727
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Volvulus ORPHA:1059
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly ORPHA:93274
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin ORPHA:35173
Meckel Syndrome, Type 1
Occipital encephalocele, Microcephaly, Large placenta, Hydrocephalus, Anencephaly, Cerebral hypop... OMIM:249000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia OMIM:617341
20Q13.33 Microdeletion Syndrome
Epicanthus, Highly arched eyebrow, Upslanted palpebral fissure, Hematochezia, Downslanted palpebr... ORPHA:261311
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... OMIM:618718
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hemat... OMIM:615895
Intermediate Osteopetrosis
Hypocalcemia, Optic atrophy from cranial nerve compression ORPHA:210110
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Death in infancy, Death i... ORPHA:144
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Scoliosis, Short neck ORPHA:178148
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... ORPHA:85450
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria OMIM:618857
Myopathy, Centronuclear, 2
Intrauterine growth retardation, Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:2617
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Leishmaniasis
Skin ulcer, Pallor, Anorexia ORPHA:507
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Periorbital edema, Congestive he... ORPHA:33226
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Intestinal polyposis, Gastrointestinal hemorrhage, Transient ischemi... ORPHA:774
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Reticular Dysgenesis
Skin ulcer ORPHA:33355
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Sacral dimple, Kyphosis OMIM:618272
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... OMIM:600795
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin OMIM:606367
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia ORPHA:240071
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Oncogenic Osteomalacia
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:352540
Porphyria Cutanea Tarda
Addictive alcohol use, Scaling skin ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Perito... ORPHA:343
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms, Dermal translucency ORPHA:529965
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abdominal pain ORPHA:234
Geroderma Osteodysplastica
Vertebral compression fracture, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis, ... ORPHA:2078
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Chronic diarrhea, Chronic mucocutaneous candidiasis, Furrowed tongue, Melena, Kerat... OMIM:158310
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Albers-Schönberg Osteopetrosis
Optic atrophy, Hypocalcemia ORPHA:53
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Abdominal pain, Vasculitis, Keratoconjunctivitis sicca, Gastrointest... ORPHA:91138
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Spinal cord compression, Platyspondyly, Cervical instability, Abno... ORPHA:93346
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Frank-Ter Haar Syndrome
Umbilical hernia, Beaking of vertebral bodies, Kyphosis, Scoliosis ORPHA:137834
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Skin rash, Acne, Sudden cardiac death, Angina pectoris, Pruritus, Te... ORPHA:758
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Fanconi Anemia
Anal atresia, Epicanthus, Aganglionic megacolon, Spina bifida, Abnormal eyelid morphology, Almond... ORPHA:84
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Skin rash, Palpebral edema, Angin... ORPHA:93672
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... ORPHA:85443
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Hemophilia B
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma OMIM:306900
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Ollier Disease
Skin ulcer ORPHA:296
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia OMIM:606693
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebral compression f... OMIM:610968
Kid Syndrome
Palmoplantar keratoderma, Epidermal acanthosis, Scaling skin, Follicular hyperkeratosis ORPHA:477
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Essential Fructosuria
Hyperglycemia ORPHA:2056
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Hyperglycemia, Rod-cone dystrophy, Retinal degeneration,... OMIM:615986
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology ORPHA:1345
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Greenberg Dysplasia
Abnormally ossified vertebrae, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:1426
Autism Spectrum Disorder Due To Auts2 Deficiency
Umbilical hernia, Kyphosis, Scoliosis ORPHA:352490
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Tip-toe gait, Hypocalcemia, Hypoketotic hypoglycemia ORPHA:746
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, Intrauterine growth... ORPHA:2655
Fanconi Renotubular Syndrome 2
Glycosuria, Hypophosphatemia OMIM:613388
Somatostatinoma
Increased circulating cortisol level, Diabetes mellitus, Hypercalcemia, Steatorrhea ORPHA:97283
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal... OMIM:192315
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Follicular hyperkeratosis OMIM:615225
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Dural ec... ORPHA:2789
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Akinesia, Dystonia OMIM:300894
Perry Syndrome
Tremor, Short stepped shuffling gait, Akinesia, Dystonia OMIM:168605
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Ovoid vertebral bodies OMIM:609052
Graft Versus Host Disease
Scaling skin ORPHA:39812
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Alobar holoprosencephaly OMIM:615433
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:618484
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:242300
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Difficulty walking, Hypophosphatemia OMIM:277440
Hallermann-Streiff Syndrome
Sparse eyelashes, Spina bifida, Sparse eyebrow, High, narrow palate, Narrow palate, Telangiectasi... OMIM:234100
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Edema of the dorsum of feet, Eosinophilia, Spina bifida, Seborrheic dermatitis,... OMIM:274000
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Hyperkeratosis, Parakeratosis, Dry skin, Epidermal acanthosis OMIM:618527
Sialidosis Type 2
Umbilical hernia, Kyphosis ORPHA:87876
Psoriasis 14, Pustular
Parakeratosis, Erythema, Epidermal acanthosis OMIM:614204
Pyle Disease
Platyspondyly, Scoliosis OMIM:265900
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Scoliosis OMIM:602271
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion ORPHA:169154
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Follicular hyperkeratosis OMIM:608649
Vipoma
Hypokalemia, Diabetes mellitus, Increased circulating cortisol level, Hypercalcemia ORPHA:97282
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Fasting hyperinsulinemia, Increased circulating cortisol level, Hyperinsulinemic h... ORPHA:276152
Osteogenesis Imperfecta, Type V
Platyspondyly, Biconcave vertebral bodies, Vertebral wedging OMIM:610967
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia ORPHA:289157
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Cervical hemivertebrae, Spina bifida, Short neck, Fused cervical vertebrae, T... ORPHA:508498
Manganese Poisoning
Postural tremor, Gait disturbance, Akinesia, Dystonia ORPHA:306682
Cole-Carpenter Syndrome
Communicating hydrocephalus, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intraute... ORPHA:2050
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Retrobulbar optic neuritis, Hyperglycemia, Optic disc pallor OMIM:619737
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Eosinophilia, Vasculitis, Malar rash, Petechiae OMIM:603909
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly OMIM:184840
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Skin rash, Symblepharon, Trichiasis, Acantholysis, Oral-pha... ORPHA:95455
Aicardi Syndrome
Block vertebrae, Spina bifida, Hemivertebrae, Scoliosis, Butterfly vertebrae OMIM:304050
Ichthyosis, Congenital, Autosomal Recessive 2
Hyperkeratosis, Erythema, Palmoplantar keratoderma, Epidermal acanthosis OMIM:242100
Neu-Laxova Syndrome 1
Spina bifida, Lissencephaly, Short umbilical cord, Small placenta, Primary microcephaly, Hydranen... OMIM:256520
Lymphatic Malformation 5
Cleft palate OMIM:153200
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption, Hepatic failure, Prolonged prothrombin time OMIM:214950
Bacterial Toxic-Shock Syndrome
Ecchymosis, Scaling skin ORPHA:36234
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking ORPHA:3198
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of... OMIM:617718
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Fulminant hepatitis, Ulcerative c... ORPHA:2137
Mcdonough Syndrome
Kyphosis, Scoliosis ORPHA:2471
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer ORPHA:217390
Holoprosencephaly
Encephalocele, Epicanthus, Median cleft lip and palate, Highly arched eyebrow, Feeding difficulti... ORPHA:2162
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Glucagonoma
Increased circulating cortisol level, Diabetes mellitus, Hypercalcemia, Steatorrhea ORPHA:97280
Bile Acid Synthesis Defect, Congenital, 3
Diarrhea, Hematochezia, Acholic stools, Prolonged prothrombin time, Steatorrhea, Hepatic failure OMIM:613812
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... OMIM:177850
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... OMIM:618917
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Alg3-Cdg
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Neural tube defect, Subcorti... ORPHA:79321
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Increased glucagon level, Hypercalcemia ORPHA:913
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Secondary Intestinal Lymphangiectasia
Edema, Lymphedema, Intestinal bleeding, Vomiting, Hypocholesterolemia, Constrictive pericarditis,... ORPHA:90363
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Thoracic scoliosis, Cervical kyphosis, Spina bifida, Kyphosco... OMIM:114290
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... ORPHA:440437
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia, Hypophosphatemia ORPHA:469
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Edema, Hematemesis, Pericardial effusion, Diarrhea, Va... OMIM:615846
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Ring Chromosome 13 Syndrome
Agenesis of corpus callosum, Anencephaly, Microcephaly ORPHA:96176
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Pyoderma Gangrenosum
Skin vesicle, Skin ulcer ORPHA:48104
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Hypoglycemia, Hypocalcemia OMIM:607143
Polyarteritis Nodosa
Erythema, Skin ulcer ORPHA:767
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Diastrophic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine growth retardation, Hypo... ORPHA:628
Lateral Meningocele Syndrome
Vertebral fusion, Tethered cord, Short neck, Kyphosis, Hydrocephalus, Meningocele, Dural ectasia,... OMIM:130720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Lethal Congenital Contracture Syndrome 2
Degenerative vitreoretinopathy, Akinesia OMIM:607598
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Sacral dimple, Exencephaly ORPHA:2211
Sialidosis Type 1
Hyperkeratosis, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Postprand... ORPHA:79102
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Multiple Epiphyseal Dysplasia, Beighton Type
Low back pain, Thoracic scoliosis, Thoracic platyspondyly, Abnormal lumbar spine morphology, Bico... ORPHA:166011
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Focal Dermal Hypoplasia
Acute hepatic failure, Telangiectasia of the skin, Spina bifida, Abdominal pain, Gastroesophageal... ORPHA:2092
Takayasu Arteritis
Skin ulcer, Anorexia ORPHA:3287
Hydrolethalus Syndrome 1
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis... OMIM:236680
Prolidase Deficiency
Erythema, Skin ulcer, Hyperkeratosis, Palmoplantar keratoderma, Dry skin ORPHA:742
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Skin rash, Raynaud phenomenon, Punctate vasculitis skin lesions, Mac... ORPHA:247691
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms, Dermal translucency OMIM:617682
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Beaking of vertebral bodies, Lumbar platyspondyly, Thoracic platy... OMIM:618961
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Scoliosis, Spina bifida OMIM:162200
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis OMIM:619797
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Ataxia, Hypocalcemia, Difficulty walking OMIM:618476
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis OMIM:614409
Pagod Syndrome
Encephalocele, Meningocele, Short stature, Spina bifida ORPHA:991
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:187900
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Ectodermal Dysplasia-Skin Fragility Syndrome
Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis ORPHA:158668
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Scaling skin ORPHA:294023
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Palmoplantar keratoderma, Skin ulcer ORPHA:659
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye... OMIM:253010
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Pigmentary retinopathy, Hypokalemia, Glycosuria ORPHA:411629
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Isolated Agammaglobulinemia
Skin ulcer ORPHA:229717
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia ORPHA:173
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus, Scoliosis, Intrauterine gro... OMIM:192350
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Platyspondyly ORPHA:250984
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... ORPHA:2298
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Ppoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97278
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordosis, Short nec... ORPHA:175
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Hyperalaninemia, Akinesia OMIM:619147
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... ORPHA:424019
4Q21 Microdeletion Syndrome
Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck ORPHA:238750
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Hyperkeratosis, Vertebral segmentation defect, Scoliosis, Intrauterine growth retardation ORPHA:1005
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hypoglycemia, Tremor, Hype... ORPHA:3008
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Myoectodermal Gonadal Dysgenesis Syndrome
Dry skin, Scaling skin OMIM:618419
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Vertebral compression fracture, Scoliosis OMIM:112240
Free Sialic Acid Storage Disease
Skin ulcer ORPHA:834
Geroderma Osteodysplasticum
Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplates, Platyspondyly, Bic... OMIM:231070
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis, Palmoplantar ke... ORPHA:79501
Brooke-Spiegler Syndrome
Skin ulcer ORPHA:79493
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... ORPHA:1159
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Epicanthus, Highly arched eyebrow, Spina bifida, Polyhydramnios, High, narrow pala... OMIM:180849
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Edema, Anorexia, Pustule, Abdominal ... ORPHA:761
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Tremor by anatomical site, Akinesia ORPHA:97349
Flynn-Aird Syndrome
Skin ulcer ORPHA:2047
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Epicanthus, Tethered cord, Spina bifida, Feeding difficulties, Chronic constipation, Gastroesopha... OMIM:619480
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Spinal cord compression, Diarrhea, Adenomatous colonic poly... ORPHA:99818
Papa Syndrome
Skin ulcer ORPHA:69126
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Gastrointe... OMIM:187300
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Follicular h... OMIM:257980
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pyoderma gangrenosum OMIM:604416
Riddle Syndrome
Erythema, Scaling skin ORPHA:420741
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Ataxia, Hypocalcemia, Steatorrhea OMIM:212750
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Skin ulcer ORPHA:1806
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation OMIM:184250
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly OMIM:601438
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Cer... OMIM:177170
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly ORPHA:90653
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis OMIM:615220
Fibular Hemimelia
Spina bifida ORPHA:93323
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion OMIM:614700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum OMIM:616576
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Dry skin, Scaling skin, Skin ulcer ORPHA:2526
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly ORPHA:71267
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis OMIM:616069
Grfoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97261
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking ORPHA:320406
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma ORPHA:324737
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Abnormality of the vertebral endplates, Platyspondyly, Ovoid vertebral bodies ORPHA:1856
Congenital Myopathy 9A
Akinesia OMIM:618822
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Hydroxykynureninuria
Dry skin, Abnormal repetitive mannerisms ORPHA:79155
Pearson Syndrome
Diabetes mellitus, Ataxia, Steatorrhea, Hypophosphatemia, Pigmentary retinopathy, Hypokalemia, Gl... ORPHA:699
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Inability to walk, Optic atrophy, Hypokalemia, Hypocalcemia OMIM:617913
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Akinesia, Limb dystonia OMIM:616840
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Hydrocephalus, Platyspondyly ORPHA:163966
15Q24 Microdeletion Syndrome
Kyphosis, Myelomeningocele, Scoliosis ORPHA:94065
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Thoracolumbar kyphosis, Cer... ORPHA:15
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Palmar hyperkeratosis OMIM:314580
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly ORPHA:2619
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Scoliosis ORPHA:464282
Chronic Mucocutaneous Candidiasis
Hyperkeratosis, Erythema, Skin ulcer ORPHA:1334
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hypocalcemia OMIM:259700
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:3191
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Short neck OMIM:618958
Alpha-Mannosidosis
Kyphosis, Scoliosis, Short neck ORPHA:61
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly OMIM:619598
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... ORPHA:3337
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Follicular hyperkeratosis, Scoliosis, Spinal rigidity OMIM:254090
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Dent Disease 1
Glycosuria, Hypophosphatemia OMIM:300009
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Parakeratosis, Dry skin, Epidermal acanthosis OMIM:607626
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Platyspondyly, Severe platyspondyly, Scoliosis OMIM:608940
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral interpedicu... OMIM:618395
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Osteogenesis Imperfecta, Type Xviii
Umbilical hernia, Vertebral compression fracture, Biconcave vertebral bodies OMIM:617952
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer ORPHA:86884
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Intrauterine growth retardation, B... OMIM:230500
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Gastrointe... OMIM:600376
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Hydrocephalus OMIM:603387
Osteogenesis Imperfecta, Type Xvii
Vertebral compression fracture, Syringomyelia, Platyspondyly, Kyphoscoliosis OMIM:616507
Ruvalcaba Syndrome
Intrauterine growth retardation, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology ORPHA:3121
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Hydrocephalus, Kyphosis, Scoliosis ORPHA:2075
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Retinal pigment epithelial mottling, Reduced blood urea nitrogen... OMIM:219800
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Cantu Syndrome
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Umbilical hernia OMIM:239850
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Myocardial ... ORPHA:91139
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Opt... ORPHA:845
Familial Multiple Nevi Flammei
Skin ulcer ORPHA:624
Behçet Disease
Gastrointestinal hemorrhage, Aortic regurgitation, Nausea and vomiting, Pericarditis, Acne, Myoca... ORPHA:117
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia ORPHA:79095
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonar... ORPHA:900
Dermatoosteolysis, Kirghizian Type
Skin ulcer ORPHA:1657
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Short neck ORPHA:93267
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum OMIM:150550
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Retinal hamartoma, Abdominal pain, Hydrocephalus, Chylop... ORPHA:538
Schwartz-Jampel Syndrome, Type 1
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft vertebrae, Pla... OMIM:255800
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Tremor, Optic atrophy, Choreoathetosis, Pigmentary retinopathy, Blepharospasm, ... OMIM:234200
Meige Disease
Cobblestone-like hyperkeratosis, Skin ulcer ORPHA:90186
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Acrodermatitis Enteropathica
Erythema, Dry skin, Skin ulcer, Anorexia ORPHA:37
Rat-Bite Fever
Scaling skin ORPHA:31205
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300280
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Sclerotic vertebral endplates, Kyphoscoliosis, Decreased cervical spine mobility OMIM:208230
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Anisospondyly ORPHA:163649
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
Williams Syndrome
Ataxia, Hypercalcemia, Elevated circulating creatine kinase concentration, Retinal arteriolar tor... ORPHA:904
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Humero-Radial Synostosis
Meningocele ORPHA:3265
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Fucosidosis
Kyphosis, Generalized hyperkeratosis, Anterior beaking of lumbar vertebrae ORPHA:349
Anauxetic Dysplasia 1
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Cervica... OMIM:607095
Classic Homocystinuria
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... ORPHA:394
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... OMIM:253800
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Normal pressure hydrocephalus, Scoliosis, Neonatal... OMIM:620351
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:253220
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Hydrocephalus OMIM:616294
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Arthrogryposis, Distal, Type 4
Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Thoracic kyphosis OMIM:619638
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum OMIM:608068
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:615453
Spondylo-Ocular Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Short neck ORPHA:85194
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:465508
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Intrauterine growth r... ORPHA:2616
Restrictive Dermopathy
Dermal translucency, Generalized hyperkeratosis, Scaling skin, Epidermal hyperkeratosis ORPHA:1662
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Intrauterine growth retardation OMIM:251450
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Vertebral compression fracture, Cervical spinal canal stenosis OMIM:620232
Pelger-Huet Anomaly
Umbilical hernia, Kyphosis OMIM:169400
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hydrocephalus, Feeding difficulties, Hematochezia, Chronic constipation OMIM:619575
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Acquired Purpura Fulminans
Pyoderma gangrenosum, Macular purpura ORPHA:49566
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Scoliosis OMIM:126550
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatic failure, Paralytic ileus, Melena, Pro... OMIM:276700
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Spina bifida, Short neck, Hydrocephalus, Platyspondyly, Stillbirth, Spondylolysis... OMIM:304120
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... ORPHA:3463
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis ORPHA:171436
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Impulsivity, Erythema, Bruxism, Facial erythema, Cutis laxa, Stereotypical body rocking, Scaling ... OMIM:619503
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly ORPHA:157965
Prolidase Deficiency
Petechiae, Skin ulcer OMIM:170100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Type I diabetes ... ORPHA:37042
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Hydrocephalus ORPHA:1860
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Rod-cone dystrophy, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Isotretinoin Embryopathy-Like Syndrome
Cleft palate OMIM:243440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Kniest Dysplasia
Short neck, Spinal cord compression, Hypoplasia of the odontoid process, Vertebral wedging, Cervi... ORPHA:485
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis ORPHA:98863
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Tricuspid regurgitation, Poor appetite, Anorexia, Hematemesis, Bowel urgency... ORPHA:100075
Multiple Endocrine Neoplasia Type 1
Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia ORPHA:652
Urban-Rogers-Meyer Syndrome
Kyphosis, Short neck ORPHA:3409
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98855
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Anauxetic Dysplasia 3
Spinal cord compression, Beaking of vertebral bodies, Thoracolumbar kyphoscoliosis, Platyspondyly OMIM:618853
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica... ORPHA:1724
Chondroectodermal Dysplasia With Night Blindness
Platyspondyly ORPHA:319195
Chronic Actinic Dermatitis
Epidermal acanthosis ORPHA:330064
Mccune-Albright Syndrome
Primary hypercortisolism, Increased circulating cortisol level, Hypophosphatemia ORPHA:562
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis OMIM:184252
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer, Dysphagia ORPHA:220393
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Platyspondyly, Neonatal death OMIM:616482
Fructose Intolerance, Hereditary
Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria OMIM:229600
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Inflammation of the large intestine OMIM:618108
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Abnormal spinal cord morphology, Scoliosis ORPHA:88628
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology ORPHA:174
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Reynolds Syndrome
Gastrointestinal hemorrhage, Raynaud phenomenon, Pruritus, Erythema nodosum, Lip telangiectasia, ... OMIM:613471
Odontochondrodysplasia
Platyspondyly, Scoliosis ORPHA:166272
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Epicanthus, Highly arched eyebrow, Feeding difficult... ORPHA:508488
Harrod Syndrome
Intrauterine growth retardation, Kyphosis, Scoliosis ORPHA:2115
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Platyspondyly, Kyphoscoliosis OMIM:612350
Odontochondrodysplasia 1
Coronal cleft vertebrae, Biconvex vertebral bodies, Platyspondyly, Scoliosis OMIM:184260
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Schaaf-Yang Syndrome
Kyphosis, Scoliosis OMIM:615547
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Pontocerebellar Hypoplasia, Type 17
Intrauterine growth retardation, Kyphosis OMIM:619909
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Beta-Ketothiolase Deficiency
Ataxia, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hyperglycemia ORPHA:134
Marinesco-Sjogren Syndrome
Kyphosis, Scoliosis OMIM:248800
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Subungual hyperkeratosis, Perianal erythema, Hyperkeratosis, Scaling skin, Follicular hyperkerato... OMIM:308205
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Posterior wedging of vertebral bodies, P... ORPHA:168549
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine growth retardation, Butterfly vertebrae ORPHA:958
Gitelman Syndrome
Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance, Hypokalemia, Diabeti... ORPHA:358
Hurler-Scheie Syndrome
Umbilical hernia, Kyphosis, Scoliosis OMIM:607015
Werner Syndrome
Hyperkeratosis, Lack of skin elasticity, Skin ulcer ORPHA:902
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Autosomal Recessive Malignant Osteopetrosis
Tremor, Optic nerve compression, Hypocalcemia, Hypophosphatemia ORPHA:667
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,... ORPHA:565
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Morbilliform r... ORPHA:99827
Hereditary Late-Onset Parkinson Disease
Resting tremor, Shuffling gait, Akinesia, Dystonia ORPHA:411602
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... ORPHA:1427
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Opsismodysplasia
Hypophosphatemia OMIM:258480
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Optic atrophy, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98853
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Platyspondyly OMIM:300863
3C Syndrome
Short neck, Kyphosis, Hydrocephalus, Hemivertebrae, Scoliosis ORPHA:7
Mucopolysaccharidosis, Type X
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... OMIM:619698
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly OMIM:601356
Mucopolysaccharidosis Type 6
Kyphosis, Ovoid vertebral bodies, Short neck ORPHA:583
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis OMIM:300354
Emanuel Syndrome
Sacral dimple, Kyphosis, Hydrocephalus, Scoliosis, Intrauterine growth retardation OMIM:609029
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Schneckenbecken Dysplasia
Ovoid vertebral bodies, Short neck, Platyspondyly, Umbilical hernia, Narrow vertebral interpedicu... OMIM:269250
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Distal Triplication 15Q
Kyphosis, Hydrocephalus, Syringomyelia, Scoliosis, Intrauterine growth retardation ORPHA:314588
Williams-Beuren Syndrome
Diabetes mellitus, Hypercalcemia, Retinal arteriolar tortuosity, Glucose intolerance, Gait imbalance OMIM:194050
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Kyphosis, Scoliosis OMIM:617190
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Restrictive Dermopathy 1
Scaling skin, Epidermal hyperkeratosis OMIM:275210
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis OMIM:615381
Thanatophoric Dysplasia, Type I
Hydrocephalus, Severe platyspondyly, Platyspondyly, Short neck OMIM:187600
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycosuria ORPHA:1652
Autosomal Dominant Hyper-Ige Syndrome
Skin vesicle, Skin ulcer ORPHA:2314
Dysosteosclerosis
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly ORPHA:1782
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Dystonia, Akinesia, Hand tremor OMIM:618947
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Osteogenesis Imperfecta, Type Xvi
Vertebral compression fracture, Platyspondyly OMIM:616229
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia ORPHA:90065
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100080
Trisomy 13
Intrauterine growth retardation, Kyphosis, Scoliosis ORPHA:3378
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:309246
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Spondyloepimetaphyseal Dysplasia, Missouri Type
Platyspondyly, Pear-shaped vertebrae, Irregular sclerotic endplates OMIM:602111
Saul-Wilson Syndrome
Spinal cord compression, Hypoplasia of the odontoid process, Irregular vertebral endplates, Platy... OMIM:618150
Czech Dysplasia
Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis, Intervertebral space ... OMIM:609162
Infantile Liver Failure Syndrome 3
Hypoplastic vertebral bodies, Beaking of vertebral bodies, Platyspondyly OMIM:618641
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Esophageal varix, Feeding d... ORPHA:731
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia OMIM:601104
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Hydrocephalus, Scoliosis OMIM:619951
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... ORPHA:449291
Ethylene Glycol Poisoning
Hyperkalemia, Ataxia, Hypocalcemia ORPHA:31826
Gaucher Disease, Perinatal Lethal
Akinesia, Opisthotonus OMIM:608013
Donohue Syndrome
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia OMIM:246200
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis OMIM:609454
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Kniest Dysplasia
Short neck, Coronal cleft vertebrae, Platyspondyly, Lumbar kyphoscoliosis, Umbilical hernia OMIM:156550
Cockayne Syndrome Type 2
Intrauterine growth retardation, Kyphosis, Scoliosis ORPHA:90322
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck ORPHA:254346
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Gm1-Gangliosidosis, Type Ii
Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumbar kyphosis, Beaking of verteb... OMIM:230600
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Hydrocephalus, Umbilical hernia, Biconc... OMIM:607014
Marden-Walker Syndrome
Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck OMIM:248700
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Hydrocephalus, Abnormalit... ORPHA:322
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase concentration,... ORPHA:2785
Mucopolysaccharidosis, Type Ii
Short neck, Kyphosis, Hydrocephalus, Cervical cord compression, Umbilical hernia OMIM:309900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Kyphoscoliosis, Platyspondyly, Cervical instability, Erythroderma, Thoracolumbar kyphosis OMIM:617425
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Intracranial hemorrha... ORPHA:90062
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus OMIM:184850
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin platyspondyly, Thoraco... OMIM:151210
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis OMIM:618443
Cowden Syndrome 5
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis OMIM:615108
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly OMIM:215150
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Neonatal death, Ol... OMIM:263200
Woodhouse-Sakati Syndrome
Scaling skin ORPHA:3464
Raine Syndrome
Hypophosphatemia OMIM:259775
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Osteogenesis Imperfecta, Type X
Thoracic scoliosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:613848
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Velocardiofacial Syndrome
Retinal vascular tortuosity, Hypocalcemia OMIM:192430
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Hypokalemia, Hyperaldosteronism, Hypophosph... ORPHA:534
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Osteogenesis Imperfecta, Type Xiii
Umbilical hernia, Kyphoscoliosis, Platyspondyly, Scoliosis OMIM:614856
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Fibrochondrogenesis 2
Platyspondyly OMIM:614524
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Epicanthus, Miscarriage, Hepatoblastoma, Polyhydramnios, Large placenta, Spinal dysraphism, Feedi... ORPHA:96334
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Hypertriglyceridemia, Poor appetite, Diarrhea, Pr... ORPHA:247598
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Self-mutilation, Acral ulceration OMIM:256800
Lethal Kniest-Like Dysplasia
Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspondyly, Short neck ORPHA:2347
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly ORPHA:93351
Gm1 Gangliosidosis
Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:354
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Rett Syndrome
Kyphosis, Scoliosis OMIM:312750
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Scoliosis ORPHA:364028
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Cowden Syndrome 6
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis OMIM:615109
Peutz-Jeghers Syndrome
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... OMIM:175200
Marfanoid-Progeroid-Lipodystrophy Syndrome
Intrauterine growth retardation, Hydrocephalus, Kyphosis, Dural ectasia OMIM:616914
Giant Cell Arteritis
Skin ulcer, Anorexia ORPHA:397
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Dpagt1-Cdg
Ataxia, Akinesia, Tremor, Inability to walk, Optic atrophy, Diffuse optic disc pallor, Rod-cone d... ORPHA:86309
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis, Epidermal acanthosis OMIM:612852
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Incontinentia Pigmenti
Hyperkeratosis, Erythema, Skin ulcer, Attention deficit hyperactivity disorder ORPHA:464
Rift Valley Fever
Abnormal bleeding, Skin rash, Miscarriage, Anorexia, Hematemesis, Retinal hemorrhage, Macular ede... ORPHA:319251
Koolen-De Vries Syndrome
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:96169
Caroli Syndrome
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Conjunct... ORPHA:480520
Autosomal Dominant Severe Congenital Neutropenia
Pyoderma gangrenosum ORPHA:486
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform lesion ORPHA:85436
Spondylometaphyseal Dysplasia, Schmidt Type
Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis ORPHA:93316
Hajdu-Cheney Syndrome
Kyphoscoliosis, Short neck, Hydrocephalus, Tall lumbar vertebral bodies, Cervical instability, Bi... OMIM:102500
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Thoracic kyphosis OMIM:300232
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Smith-Mccort Dysplasia 2
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck OMIM:615222
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scoliosis OMIM:617061
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Scoliosis OMIM:619131
Livedoid Vasculopathy
Ecchymosis, Skin ulcer, Macular purpura ORPHA:542643
Osteogenesis Imperfecta, Type Xx
Vertebral compression fracture, Kyphoscoliosis OMIM:618644
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Hardikar Syndrome
Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac di... OMIM:301068
Hall-Riggs Syndrome
Platyspondyly, Scoliosis ORPHA:2107
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia ORPHA:438216
Sarcoidosis
Hypercalcemia ORPHA:797
Bruck Syndrome 2
Platyspondyly OMIM:609220
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Umbilical hernia ORPHA:1517
Micro Syndrome
Intrauterine growth retardation, Kyphosis, Scoliosis ORPHA:2510
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Thanatophoric Dysplasia, Type Ii
Platyspondyly OMIM:187601
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Po... ORPHA:3042
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Umbilical hernia... OMIM:619636
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Sotos Syndrome
Tremor, Hypercalcemia, Neonatal hypoglycemia ORPHA:821
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Dyggve-Melchior-Clausen Disease
Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral endplates, Atlantoax... ORPHA:239
Jaberi-Elahi Syndrome
Kyphosis, Scoliosis OMIM:617988
Pycnodysostosis
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Intrauterine growth retardation, Spondylolisth... ORPHA:763
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Vertebral compression fracture, Kyphoscoliosis, Scoliosis, Short neck OMIM:309583
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms OMIM:616393
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Atelosteogenesis Type I
Coronal cleft vertebrae, Platyspondyly, Scoliosis, Absent or minimally ossified vertebral bodies ORPHA:1190
Sillence Syndrome
Back pain, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral disc degeneration ORPHA:3168
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short neck OMIM:616897
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Platyspondyly, Vertebral wedging OMIM:617866
Chronic Granulomatous Disease
Skin ulcer ORPHA:379
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Severe platyspondyly, Short neck OMIM:613320
Infantile Systemic Hyalinosis
Skin ulcer ORPHA:2176
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Hydrocephalus, Scoliosis ORPHA:500055
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Scoliosis, Umbilical hernia OMIM:301040
Gaucher Disease, Type I
Vertebral compression fracture OMIM:230800
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Ataxia, Tremor, Glycosuria, Hypokalemia, Increased... ORPHA:466677
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis OMIM:242900
Sandhoff Disease
Cherry red spot of the macula, Exaggerated startle response, Ataxia OMIM:268800
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Catastrophic Antiphospholipid Syndrome
Skin ulcer ORPHA:464343
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoglycemia OMIM:613658
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Thoracolumbar scoliosis, Scoliosis, Short neck OMIM:616723
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Eosinophilia, Eczema, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea... OMIM:301000
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele OMIM:614424
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia ORPHA:544482
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:2479
Alexander Disease
Hyperlordosis, Aqueductal stenosis, Kyphosis, Short neck, Hydrocephalus, Scoliosis ORPHA:58
Cowden Syndrome 1
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis OMIM:158350
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Optic nerve hypoplasia, Hypoasparaginemia OMIM:615574
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Orthokeratosis OMIM:308050
Congenital Heart Defects And Skeletal Malformations Syndrome
Intrauterine growth retardation, Kyphosis, Scoliosis OMIM:617602
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Intrauterine growth retardation, Spondyloli... OMIM:610443
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Scoliosis, Short neck ORPHA:85293
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Monosomy 9Q22.3
Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral column, Umbilical hernia ORPHA:77301
Achondroplasia
Lumbar hyperlordosis, Hydrocephalus, Lumbar kyphosis in infancy, Spinal stenosis with reduced int... OMIM:100800
Hereditary Acrokeratotic Poikiloderma
Erythema, Skin ulcer, Palmoplantar hyperkeratosis ORPHA:2907
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis OMIM:616449
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... OMIM:271510
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis OMIM:226980
Ramon Syndrome
Hyperkeratosis, Kyphosis, Scoliosis OMIM:266270
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Hyperlordosis ORPHA:568
Plague
Abnormal bleeding, Chapped lip, Tachycardia, Skin rash, Edema, Anorexia, Hematemesis, Erythema no... ORPHA:707
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Scoliosis OMIM:618493
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Platyspondyly, Cuboid-shaped vertebral bodies, Short neck OMIM:611717
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... ORPHA:457395
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Hydrocephalus, Cervical spine ... ORPHA:536467
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Scoliosis, Umbilical her... OMIM:265000
Leukocyte Adhesion Deficiency, Type I
Skin ulcer OMIM:116920
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis, In... OMIM:300966
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck ORPHA:1830
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Poland Syndrome
Encephalocele, Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spi... ORPHA:2911
Multicentric Osteolysis, Nodulosis, And Arthropathy
Vertebral compression fracture, C1-C2 subluxation, Kyphoscoliosis OMIM:259600
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Chime Syndrome
Hyperkeratosis, Erythema, Skin ulcer ORPHA:3474
Leprechaunism
Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldosteronism, Increased circulating reni... ORPHA:508
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Hydrocephalus, Vertebral compression fracture, Noncommunicating hydr... ORPHA:666
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... OMIM:607944
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Ataxia, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Rod-cone dystrophy OMIM:124000
Cranioectodermal Dysplasia 1
Retinal dystrophy, Hypocalcemia OMIM:218330
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Osteogenesis Imperfecta, Type Ii
Platyspondyly OMIM:166210
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Platyspondylic Dysplasia, Torrance Type
Platyspondyly ORPHA:85166
2P15P16.1 Microdeletion Syndrome
Intrauterine growth retardation, Kyphosis, Scoliosis ORPHA:261349
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Scoliosis ORPHA:2215
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Dyskeratosis Congenita
Skin vesicle, Palmoplantar keratoderma, Skin ulcer ORPHA:1775
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261250
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Kyphosis, Hemivertebrae, Scoliosis, Short neck OMIM:618223
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... ORPHA:261584
Noonan Syndrome 14
Kyphosis, Short neck OMIM:619745
Alstrom Syndrome
Kyphosis, Scoliosis OMIM:203800
Marshall-Smith Syndrome
Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Hydrocephalus, ... OMIM:602535
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Esophageal varix, Feeding difficulties, Pulmonar... ORPHA:2072
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Umbilical hernia ORPHA:536532
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Ataxia, Glycosuria, Hyperglycemia, Retinopathy ORPHA:99885
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cleft palate, Gastric ul... OMIM:135900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Agitation, Skin ulcer, Purpura OMIM:615688
2Q31.1 Microdeletion Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck ORPHA:251014
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Marden-Walker Syndrome
Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine growth re... ORPHA:2461
Dysosteosclerosis
Increased intervertebral space, Irregular vertebral endplates, Platyspondyly, Hypoplastic vertebr... OMIM:224300
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Kyphoscoliosis, Cervical spine instability OMIM:615349
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus, Syringomyelia, Scoliosis, ... ORPHA:955
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Abnormally s... ORPHA:800
Pgm3-Cdg
Skin ulcer ORPHA:443811
Cohen Syndrome
Intrauterine growth retardation, Kyphosis, Scoliosis ORPHA:193
Wolf-Hirschhorn Syndrome
Sacral dimple, Tethered cord, Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the... ORPHA:280
Fibrochondrogenesis 1
Platyspondyly, Posterior vertebral hypoplasia, Short neck OMIM:228520
Hennekam Syndrome
Hypocalcemia ORPHA:2136
African Trypanosomiasis
Papilledema, Akinesia, Tremor, Choreoathetosis, Optic neuritis, Gait disturbance, Difficulty walk... ORPHA:3385
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Granulomatosis With Polyangiitis
Skin ulcer OMIM:608710
Weaver Syndrome
Umbilical hernia, Kyphosis, Scoliosis OMIM:277590
Desbuquois Dysplasia 2
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis ORPHA:1969
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... ORPHA:424016
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Optic nerve hypoplasia, Hypocalcemia, Dystonia OMIM:620330
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly ORPHA:1855
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant d... ORPHA:79474
Semilobar Holoprosencephaly
Hydrocephalus, Cleft palate, Feeding difficulties, Abnormal heart rate variability, Neural tube d... ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Cleft palate, Feeding difficulties, Abnormal heart rate variability, Neural tube d... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Cleft palate, Feeding difficulties, Abnormal heart rate variability, Neural tube d... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Cleft palate, Feeding difficulties, Abnormal heart rate variability, Neural tube d... ORPHA:93924
Atelosteogenesis, Type I
Encephalocele, Short neck, Thoracic platyspondyly, Fused cervical vertebrae, Coronal cleft verteb... OMIM:108720
Lowry-Wood Syndrome
Platyspondyly ORPHA:1824
Arteriosclerosis, Severe Juvenile
Hypertension, Gastric ulcer, Myocardial infarction OMIM:208060
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Amoebiasis Due To Free-Living Amoebae
Restlessness, Skin ulcer ORPHA:68
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Congenital Dyserythropoietic Anemia Type Iii
Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding ORPHA:98870
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Intrauterine growth retardation, Kyphosis, Scoliosis OMIM:619005
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:79255
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Platyspondyly, Scoliosis, Short neck OMIM:245600
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia OMIM:609069
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Platyspondyly, Scoliosis OMIM:612394
Malakoplakia
Skin ulcer ORPHA:556
Spondyloocular Syndrome
Vertebral compression fracture, Platyspondyly OMIM:605822
Yellow Fever
Abnormal bleeding, Shock, Skin rash, Nausea, Abdominal pain, Hematemesis, Excessive bleeding afte... ORPHA:99829
Myhre Syndrome
Vertebral fusion, Short neck, Enlarged vertebral pedicles, Platyspondyly, Intrauterine growth ret... OMIM:139210
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Pruritus, Platyspondyly, Scoliosis OMIM:619269
Cdags Syndrome
Kyphosis OMIM:603116
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Steatorrhea ORPHA:440713
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis, Umbilical hernia ORPHA:1507
Fusariosis
Skin ulcer ORPHA:228119
Sweet Syndrome
Skin vesicle, Pyoderma gangrenosum ORPHA:3243
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Bent Bone Dysplasia Syndrome 2
Coronal cleft vertebrae, Platyspondyly, Butterfly vertebrae, Short neck OMIM:620076
Wolfram Syndrome 2
Abnormal bleeding, Gastric ulcer OMIM:604928
Greenberg Dysplasia
Large placenta, Punctate vertebral calcifications, Hypoplastic vertebral bodies, Horizontal sacru... OMIM:215140
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy OMIM:617527
Shwachman-Diamond Syndrome
Vertebral compression fracture, Skin rash, Eczema ORPHA:811
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Hypoglycemia, Tremor, Hyperammonemia, Dysmetria, Truncal ataxia, Hyperglycemia OMIM:220111
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis OMIM:618050
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Ovoid vertebral bodies, Scoliosis ORPHA:85167
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Sacral dimple, Scoliosis, Short neck OMIM:616894
Prader-Willi Syndrome
Intrauterine growth retardation, Kyphosis, Scoliosis OMIM:176270
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis ORPHA:464738
Marfan Syndrome
Kyphosis, Meningocele, Dural ectasia, Scoliosis, Spondylolisthesis ORPHA:558
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Skin rash, Platyspondyly, Chronic mucocutaneous candidiasis OMIM:102700
Mgat2-Cdg
Kyphosis, Scoliosis ORPHA:79329
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Skin rash, Recurrent skin infections, Anorexia, Abdom... OMIM:619381
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer, Ptosis OMIM:161700
Congenital Tracheal Stenosis
Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra... ORPHA:141127
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intestinal bleeding, Gastrointestinal telangiectasia, Oral leukoplakia, Retinal telangiectasia OMIM:612199
Blau Syndrome
Skin ulcer OMIM:186580
Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Kyphoscoliosis, Coronal cleft vertebrae, Platyspondyly, Scoliosis, Bea... ORPHA:536471
Dermatomyositis
Erythema, Dry skin, Skin ulcer ORPHA:221
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Intrauterine growth retardation, Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:464311
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Scoliosis ORPHA:398069
Cleidocranial Dysplasia 1
Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis OMIM:212065
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia ORPHA:293987
Mend Syndrome
Kyphosis, Sacral dimple, Hydrocephalus ORPHA:401973
Mend Syndrome
Kyphosis, Sacral dimple, Hydrocephalus OMIM:300960
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis OMIM:619708
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Spinal cord compression, Irregular vertebral ... OMIM:271640
Dyrk1A-Related Intellectual Disability Syndrome
Intrauterine growth retardation, Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:464306
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Holoprosencephaly, Scoliosis, Intrau... ORPHA:818
Schinzel-Giedion Syndrome
Aganglionic megacolon, Dysphagia, Anteriorly placed anus, Macroglossia, Neural tube defect, High ... ORPHA:798
Cushing Disease
Ecchymosis, Striae distensae, Skin ulcer, Purpura ORPHA:96253
Aspartylglucosaminuria
Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis OMIM:208400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Leprosy
Hyperkeratosis, Penetrating foot ulcers, Acral ulceration ORPHA:548
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Chronic Graft Versus Host Disease
Anorexia, Erythema, Skin ulcer, Dysphagia, Skin vesicle ORPHA:99921
Cowden Syndrome
Kyphosis, Palmoplantar keratoderma, Generalized hyperkeratosis, Scoliosis ORPHA:201
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia ORPHA:447997
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Tethered cord, Kyphosis, Hydrocephalus, Abnormal form of the ver... OMIM:194190
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Umbilical hernia, Platyspondyly, Short neck ORPHA:309282
Primary Sjögren Syndrome
Dry skin, Skin ulcer, Purpura ORPHA:289390
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Hydrocephalus, Scoliosis ORPHA:2658
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Kyphosis, Scoliosis, Short neck OMIM:619194
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Porphyria, Congenital Erythropoietic
Vertebral compression fracture OMIM:263700
Marshall Syndrome
Platyspondyly OMIM:154780
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Broad-based gait, Exaggerated startle response, Decreased serum iron, Inabilit... ORPHA:438213
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis ORPHA:2232
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Mucolipidosis Type Ii
Umbilical hernia, Kyphosis ORPHA:576
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Spinal cord compression, Hypoplasia of the odontoid process, Atlantoaxial instability... OMIM:271665
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Blau Syndrome
Erythema, Dry skin, Skin ulcer ORPHA:90340
Zttk Syndrome
Intrauterine growth retardation, Kyphosis, Hemivertebrae, Scoliosis OMIM:617140
X-Linked Intellectual Disability, Snyder Type
Kyphosis, Kyphoscoliosis ORPHA:3063
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Cockayne Syndrome B
Intrauterine growth retardation, Normal pressure hydrocephalus, Kyphosis OMIM:133540
Cockayne Syndrome A
Intrauterine growth retardation, Normal pressure hydrocephalus, Kyphosis OMIM:216400
Camurati-Engelmann Disease
Kyphosis, Abnormality of the vertebral column, Scoliosis, Hyperlordosis ORPHA:1328
Lathosterolosis
Meningocele ORPHA:46059
Occipital Horn Syndrome
Kyphosis, Platyspondyly OMIM:304150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Kyphosis, Hydrocephalus, Abnormal curvature of the vertebral column, Scoliosis, Intrau... OMIM:619475
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:828
Charge Syndrome
Retinal coloboma, Hypocalcemia OMIM:214800
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Hyperkeratosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral ... ORPHA:2273
Osteogenesis Imperfecta, Type Vii
Vertebral compression fracture, Scoliosis OMIM:610682
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding ORPHA:252183
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Irregular vertebral endplates, Platyspondyly, Posterior scalloping of vertebral bodies, Short neck OMIM:610442
Digeorge Syndrome
Hypocalcemia OMIM:188400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Intrauterine growth retardation, Sacral dimple, Kyphosis, Scoliosis ORPHA:268261
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300967
Cockayne Syndrome Type 3
Kyphosis, Scoliosis ORPHA:90324
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Neurofibromatosis Type 1
Kyphosis, Hydrocephalus, Scoliosis ORPHA:636
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Skin ulcer, Ecchymosis, Striae distensae, Purpura ORPHA:99889
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Diabetes mellitus, Hypocalcemia, Increased VLDL cholesterol concen... OMIM:243800
Osteoglophonic Dysplasia
Platyspondyly, Short neck OMIM:166250
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Hydrocephalus, Cleft vertebral arch, Hyperkeratosis, Platyspondyly OMIM:210710
Kyphomelic Dysplasia
Platyspondyly OMIM:211350
Myhre Syndrome
Platyspondyly ORPHA:2588
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acral ulceration OMIM:256810
17Q11 Microdeletion Syndrome
Kyphosis, Dural ectasia, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3,... ORPHA:97685
Proteus Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Sirenomelia, Scoliosis, Generalized hyperkeratosis ORPHA:744
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Epidermal acanthosis ORPHA:83617
Sponastrime Dysplasia
Lumbar hyperlordosis, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspondyly, Abnorm... ORPHA:93357
Blomstrand Lethal Chondrodysplasia
Platyspondyly ORPHA:50945
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Wrinkly Skin Syndrome
Umbilical hernia, Kyphosis, Scoliosis, Intrauterine growth retardation OMIM:278250
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly OMIM:263520
Phocomelia, Schinzel Type
Meningocele ORPHA:2879
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Scoliosis OMIM:309000
Fontaine Progeroid Syndrome
Umbilical hernia, Hydrocephalus, Scoliosis, Platyspondyly OMIM:612289
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Platyspondyly OMIM:619727
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly ORPHA:93317
Cockayne Syndrome
Kyphosis, Scoliosis ORPHA:191
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Bruxism ORPHA:48652
1P36 Deletion Syndrome
Kyphosis, Spinal canal stenosis, Scoliosis ORPHA:1606
Acromegaly
Kyphosis, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Kyphosis, Spinal canal stenosis ORPHA:314769
Turner Syndrome Due To Structural X Chromosome Anomalies
Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck ORPHA:99413
Mosaic Monosomy X
Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck ORPHA:99228
Monosomy X
Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck ORPHA:99226
Turner Syndrome
Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck ORPHA:881
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Branchiooculofacial Syndrome
Hyperlordosis, Short neck, Kyphosis, Branchial anomaly, Intrauterine growth retardation OMIM:113620
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Short neck OMIM:250220
Arima Syndrome
Occipital meningocele OMIM:243910
Viss Syndrome
Umbilical hernia, Kyphosis, Butterfly vertebrae, Scoliosis OMIM:619472
Primrose Syndrome
Kyphosis, Posterior scalloping of vertebral bodies, Irregular vertebral endplates OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Yunis-Varon Syndrome
Intrauterine growth retardation, Kyphosis, Anterior concavity of thoracic vertebrae, Palmoplantar... OMIM:216340
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Short neck ORPHA:99646
Leukocyte Adhesion Deficiency
Pyoderma gangrenosum ORPHA:2968
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Pmm2-Cdg
Platyspondyly, Kyphoscoliosis ORPHA:79318
Alström Syndrome
Kyphosis, Thoracic scoliosis, Lumbar scoliosis ORPHA:64

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 Grhl3

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 Grhl3.

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

Title Journal IMPC Allele PubMed ID
Cytoplasmic localization of GRHL3 upon epidermal differentiation triggers cell shape change for epithelial morphogenesis. Nature communications (October 2018) Grhl3tm1a(EUCOMM)Wtsi PMC6170465

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Grhl3tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Grhl3tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Grhl3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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