Gene Summary

thyroid hormone receptor beta
Nr1a2,  c-erbAbeta,  TR beta,  Thrb1,  Thrb2,  T3Rbeta,  T3R[b]

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
tremors Thrbtm2a(EUCOMM)Wtsi HOM Early adult 1.69×10-05
decreased hemoglobin content Thrbtm2a(EUCOMM)Wtsi HOM Early adult 4.56×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Thrb 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 Thrb by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Increased circulating free T3, Goiter OMIM:188570
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter, Hearing impairment OMIM:274300
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650

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

Disease Similarity of
Matching phenotypes Source
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 level OMIM:615999
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter OMIM:274700
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Pendred Syndrome
Cochlear malformation, Thyroid carcinoma, Goiter, Congenital sensorineural hearing impairment, Co... OMIM:274600
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Alzheimer Disease 10
Dementia, Memory impairment OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Increased circulating free T3, Goiter OMIM:188570
Craniosynostosis, 4-5 toe syndactyly, Hearing impairment OMIM:109050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Pituitary gonadotropic c... ORPHA:300385
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter, Hearing impairment OMIM:228355
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter, Hearing impairment OMIM:274300
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Rhabdomyosarcoma, Embryonal, 2
Goiter, Multinodular goiter, Embryonal rhabdomyosarcoma, Ovarian thecoma, Thyroid nodule, Nephrob... OMIM:180295
Pendred Syndrome
Thyroid carcinoma, Hypoplasia of the cochlea, Goiter, Enlarged vestibular aqueduct, Vertigo, Sens... ORPHA:705
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter, Preaxial foot polydactyly, Bilateral triphalangeal thumbs, Postaxial hand po... OMIM:138790
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Decreased s... OMIM:618157
Thyroid Lymphoma
Stridor, Goiter, Lymphoma, Upper airway obstruction, Respiratory distress, Hyperthyroidism, Hypot... ORPHA:97285
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Thickened calvaria, Brachycephaly, Craniosynostosis, Facial palsy, Hearing impairm... ORPHA:178377
Tremor OMIM:231950
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Renal oncocytoma, Papillary thyroid carcinoma, Nodular goiter, Renal cortical adenoma, Br... ORPHA:97290
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Familial Alzheimer-Like Prion Disease
Attention deficit hyperactivity disorder, Deficit in phonologic short-term memory, Cognitive impa... ORPHA:280397
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Follicular thyroid carcinoma, Neoplasm of he... ORPHA:319487
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Sensorineural hearing impairment, Craniosynostosis ORPHA:2866
Isolated Cloverleaf Skull Syndrome
Craniosynostosis, Low-set, posteriorly rotated ears, Finger syndactyly, Limitation of joint mobil... ORPHA:2343
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Deafness, Autosomal Recessive 37
Congenital stationary night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Bila... OMIM:607821
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 ... ORPHA:95716
Thyroid Dyshormonogenesis 6
Congenital hypothyroidism, Hypothyroidism OMIM:607200
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
Anaplastic Thyroid Carcinoma
Neoplasm of the lung, Stridor, Goiter, Malignant neoplasm of the central nervous system, Anaplast... ORPHA:142
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Mccune-Albright Syndrome
Increased circulating cortisol level, Hearing impairment, Pituitary adenoma, Hyperthyroidism, Hyp... OMIM:174800
Immunodeficiency 8
Hyperactivity OMIM:615401
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity OMIM:264010
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vestibular dysfunction, Vertigo OMIM:600060
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level OMIM:603373
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Euthyroid goiter ORPHA:3327
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Isolated Oxycephaly
Oxycephaly, Papilledema, Coronal craniosynostosis, Sagittal craniosynostosis, Lambdoidal craniosy... ORPHA:63440
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Osteoporosis, Delayed puberty, Osteopenia OMIM:615270
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Increased serum insulin-like gr... ORPHA:300373
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, Genu varum, Thin bony cortex, Generalized bone de... OMIM:600785
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Flat... ORPHA:564003
Blepharochalasis And Double Lip
Goiter OMIM:109900
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Thyroid carcinoma, Fibrous dysplasia of the bones, Rickets, Increased ci... ORPHA:249
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Hearing impairment OMIM:617577
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Genu valgum, Hearing impairment, Short foot, Short metacarpal, Patellar dislocation... OMIM:614078
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Abnormality of epiphysis morphology, Decreased circulating T4 ... ORPHA:226313
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Usher Syndrome, Type I
Sensorineural hearing impairment, Absent vestibular function, Rod-cone dystrophy OMIM:276900
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Thyroid hyperplasia, Goiter OMIM:609152
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:99819
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:424
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Myoclonus, Tremor OMIM:611092
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... OMIM:218530
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all distal phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Craniosynostosis 1
Craniosynostosis, Oxycephaly, Scaphocephaly, Turricephaly, Dolichocephaly OMIM:123100
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating... ORPHA:562
Ascher Syndrome
Deviation of finger, Hypothyroidism, Goiter ORPHA:1253
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment OMIM:600501
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Congenital Disorder Of Glycosylation, Type Iin
Cerebellar atrophy, Craniosynostosis, Osteopenia, Hearing impairment, Joint hypermobility, Cerebr... OMIM:616721
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... OMIM:619598
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Hearing impairment, Abnormal testis mo... ORPHA:457059
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Astrocytoma, Goiter, Neoplasm of the adrenal... ORPHA:163634
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Osteoporosis, Delayed thelarche, Delayed puberty, Joint laxity OMIM:616033
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Osteoporosis, Gout, Myocardial infarction, Diabetes mellitus, Sudden cardiac death OMIM:610947
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology, Microcephaly ORPHA:3465
Trigonocephaly With Short Stature And Developmental Delay
Small anterior fontanelle, Trigonocephaly, Posteriorly rotated ears, Clinodactyly of the 5th fing... OMIM:314320
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter, Squamous cell carcinoma OMIM:618373
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Cowden Syndrome 5
Goiter, Ovarian cyst, Thyroid adenoma, Hearing impairment, Hyperthyroidism, Thyroiditis, Hypothyr... OMIM:615108
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Sensorineural hearing impairment, Increased bone mineral density, Hypo... OMIM:241520
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment, Microcephaly OMIM:616460
Fetal Iodine Syndrome
Sensorineural hearing impairment, Hypothyroidism ORPHA:1910
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Muenke Syndrome
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Capitate-hamate fusion, Brachyc... OMIM:602849
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Hip subluxation, Hip dislocation, Recurrent fractures, Osteoporosis OMIM:256720
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Aganglionic megacolon, Increased circulating cortisol level, Medullary thyroid ... OMIM:171400
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter, Hypohidrosis OMIM:255900
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Pediatric-Onset Graves Disease
Hypertension, Increased circulating T4 level, Atrial fibrillation, Goiter, Neutropenia in presenc... ORPHA:525731
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Hypochromic microcytic anemia, Dysmetria, Sideroblastic anemia, Intention ... OMIM:301310
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... OMIM:277950
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Micrognathia, Trigonocephaly, Craniosynostosis, Scaphocephaly, Low-set ears OMIM:616901
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreased circulating T4... OMIM:618573
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Cowden Syndrome 6
Goiter, Ovarian cyst, Thyroid adenoma, Hearing impairment, Hyperthyroidism, Thyroiditis, Hypothyr... OMIM:615109
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cognitive impairment, Cerebellar atrophy, Type I diabetes mellitus OMIM:616192
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Osteoporosis, Short distal phalanx of finger, Joint hyperflexibility ORPHA:2787
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:91350
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Hypertension, Osteopoikilosis, Abnormal... ORPHA:1879
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Multiple Epiphyseal Dysplasia With Robin Phenotype
Talipes equinovarus, Short stature, Short humerus, Short femur, Irregular epiphyses, Micrognathia... OMIM:601560
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-... ORPHA:91347
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostosis, Distal symphalangism of han... OMIM:185900
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Premature Ovarian Failure 2B
Osteoporosis, Delayed puberty, Premature ovarian insufficiency OMIM:300604
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:601068
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Upper limb undergrowth, Abnormality of epiphysis morphology, Sho... ORPHA:93351
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small anterior fontanelle, Metopic suture patent to nasal root, Trigonocephaly, Fifth finger dist... ORPHA:3369
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Enlarged pituitary gland, Hypogonadism, Panhypopit... ORPHA:91351
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Mental Retardation, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment OMIM:617605
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Prieto X-Linked Mental Retardation Syndrome
Talipes equinovarus, Patellar subluxation, Osteoporosis, Radial deviation of finger, 11 pairs of ... OMIM:309610
Coffin-Siris Syndrome 7
Trigonocephaly, Recurrent otitis media, Macrotia, Posteriorly rotated ears, Hearing impairment, L... OMIM:618027
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Weight loss, Tachycardia, Hyperthyroidism OMIM:188580
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Intrauterine growth retardation, Short stature, Absence of secondary s... ORPHA:163976
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Acrocraniofacial Dysostosis
Conductive hearing impairment, Micrognathia, Abnormal auditory evoked potentials, Metatarsus addu... OMIM:201050
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Micrognathia, Frontal bossing, Orbital craniosynostosis, Dolichocephaly ORPHA:1538
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... OMIM:185700
Autosomal Recessive Omodysplasia
Micrognathia, Abnormality of femur morphology, Rhizomelia, Craniosynostosis, Posteriorly rotated ... ORPHA:93329
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Papilledema, ... OMIM:614188
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Palpitations, Weight loss, Tachycardia, Hyperthyroidism OMIM:613239
Summitt Syndrome
Craniosynostosis, Syndactyly, Oxycephaly OMIM:272350
Hypothyroidism, Congenital, Nongoitrous, 1
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... OMIM:275200
Wolfram-Like Syndrome
Optic atrophy, Congenital sensorineural hearing impairment, Abnormality of the pinna, Male hypogo... ORPHA:411590
Isolated Congenital Hypoglossia/Aglossia
Upper airway obstruction, Respiratory distress, Dyspnea, Hamartoma, Aspiration pneumonia ORPHA:141152
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Short femur, Hypoplasia of th... OMIM:612447
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriately ... OMIM:301035
Graves Disease, Susceptibility To, 1
Graves disease, Hyperhidrosis, Goiter OMIM:275000
Hypophosphatemic Rickets
Elevated circulating parathyroid hormone level, Abnormal lower limb bone morphology, Fibrous dysp... ORPHA:437
Pfeiffer Syndrome Type 1
Short hallux, Broad hallux phalanx, Toe syndactyly, Midface retrusion, Brachycephaly, Aplasia/Hyp... ORPHA:93258
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Dementia, Cerebellar atrophy OMIM:212840
Increased circulating prolactin concentration, Hypogonadotropic hypogonadism, Pituitary hypothyro... ORPHA:251623
Cowden Syndrome 7
Trichilemmoma, Goiter, Hemangioma, Papillary thyroid carcinoma, Breast carcinoma, Intestinal poly... OMIM:616858
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Hypothyroidism, Congenital, Nongoitrous, 5
Ectopic thyroid, Congenital hypothyroidism, Thyroid hypoplasia, Hypothyroidism OMIM:225250
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Isolated Thyroid-Stimulating Hormone Deficiency
Large posterior fontanelle, Macroorchidism, Delayed proximal femoral epiphyseal ossification, Gro... ORPHA:90674
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Craniosynostosis, Philadelphia Type
Craniosynostosis, Finger syndactyly ORPHA:1527
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Redu... ORPHA:2410
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Craniosynostosis, Severe short stature, Ce... OMIM:225755
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Short metatarsal, Osteoporosis, Short metacarpal, Pseudohypoparathyroidism, Obesity, Brachydactyly OMIM:612463
Cowden Syndrome 1
Goiter, Ovarian cyst, Thyroid adenoma, Hearing impairment, Hyperthyroidism, Thyroiditis, Ovarian ... OMIM:158350
Immunodeficiency 12
Osteoporosis OMIM:615468
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... OMIM:605361
Crouzon Disease
Optic atrophy, Conductive hearing impairment, Brachycephaly, Hearing impairment, Frontal bossing,... ORPHA:207
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Patellar subluxation, Osteoporosis, Coxa valga, Finger clinodactyly, Cryptorchidism, Bilateral ta... ORPHA:2958
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Talipes equinovarus, Short stature, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:356961
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elevated circulatin... OMIM:176400
Craniosynostosis, Turricephaly, Oxycephaly OMIM:123050
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality ... ORPHA:1263
Spinocerebellar Ataxia 41
Cerebellar atrophy OMIM:616410
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... OMIM:614561
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Carney Complex, Type 1
Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated circulating growth... OMIM:160980
Craniosynostosis 3
Hallux valgus, Craniosynostosis, Brachydactyly OMIM:615314
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Micrognathia, Flexion contracture of toe, Abnormality of epiphysis morphology, Os... ORPHA:3409
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... ORPHA:3152
Congenital Disorder Of Glycosylation, Type Iik
Metaphyseal dysplasia, Failure to thrive, Osteoporosis, Epiphyseal dysplasia, Diaphyseal dysplasi... OMIM:614727
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Attention deficit hyperactivity disorder, Difficulty wal... OMIM:619191
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Pituitary hypothyroidism, Gonadotropin deficiency, Anterior pituitary hypoplasia, Hypothalamic lu... ORPHA:231720
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Tibial bowing, Thin bony cortex, Fibular bowing, ... OMIM:264700
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Neoplasm, Respiratory distress, Diabetes mellitus, Acute infectious pneumonia, ... ORPHA:140896
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Brachycephaly, Craniosynostosis, Finger syndactyly, Split hand, Turricephaly, Abnor... ORPHA:2145
Medullary Thyroid Carcinoma
Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevated calcitonin, Hy... ORPHA:1332
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... ORPHA:970
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Osteoporosis, Cryptorchidism ORPHA:408
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Osteoporosis, Male hypogonadism, Premature ovarian insufficiency OMIM:618625
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Oligodactyly, Fibular hypoplasia, Posteri... OMIM:201170
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight, Osteoporosis OMIM:613606
Neoplasm of the skin, Hypothalamic hypothyroidism, Decreased circulating follicle stimulating hor... ORPHA:2495
Craniofacial Dyssynostosis
Micrognathia, Craniosynostosis, Frontal bossing, Stenosis of the external auditory canal, Dolicho... ORPHA:1516
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Low-frequency hearing loss, Sensorineural hearing impairment OMIM:124900
Chondroectodermal Dysplasia With Night Blindness
Micrognathia, Metaphyseal dysplasia, Abnormality of the knee, Fractures of the long bones, Talipe... ORPHA:319195
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
X-Linked Intellectual Disability, Cilliers Type
Short stature, Small hand, Absence of secondary sex characteristics, Increased circulating gonado... ORPHA:163971
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... ORPHA:2501
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Angioosteohypotrophic Syndrome
Abnormal foot morphology, Upper limb undergrowth, Thin bony cortex, Telangiectasia of the skin, H... ORPHA:75508
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Tibial bowing, Thin bony cortex, Fibular bowing, ... OMIM:277440
Branchiootorenal Syndrome 1
Conductive hearing impairment, Dilatated internal auditory canal, Incomplete partition of the coc... OMIM:113650
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Epilepsy, Progressive Myoclonic, 8
Dementia, Cognitive impairment OMIM:616230
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, Craniosynostosis, Macrotia, Frontal bossing, Low-set ears ORPHA:314575
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Rocker bottom foot, Second metatarsal posteriorly placed, Failure to thrive, Osteop... OMIM:214150
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Cognitive impairment, Truncal ataxia OMIM:617584
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Central hypothyroidism, Hypogonadism OMIM:616113
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... OMIM:617395
Craniosynostosis 6
Plagiocephaly, Cerebellar atrophy, Brachycephaly, Craniosynostosis, Sensorineural hearing impairm... OMIM:616602
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Craniosynostosis-Mental Retardation-Clefting Syndrome
Lower limb undergrowth, Craniosynostosis, Microcephaly, Forearm undergrowth OMIM:218650
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 level, D... ORPHA:171706
Ceroid Lipofuscinosis, Neuronal, 11
Mental deterioration, Cerebellar atrophy OMIM:614706
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior pituitar... OMIM:221750
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Diabetes mellitus, Progressive sensorineural hearing impairment OMIM:172500
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Steep acetabular roof, Micrognathia, Short clavicles, Midface r... ORPHA:313855
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Joint contracture of the hand, Broad hallux, Delayed cranial suture closure... OMIM:175700
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:85292
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Myasthenia Gravis
Primary adrenal insufficiency, Hearing impairment, Hyperthyroidism, Abnormality of the thymus, Ha... ORPHA:589
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Metaphyseal Acroscyphodysplasia
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Craniosynostosis, Low-set, posteriorly rotated ears, Fronta... ORPHA:1528
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Hearing impairment, Hyperthyroidism, Pigmentary retinopathy, Hyperintensity of... ORPHA:502423
Buschke-Ollendorff Syndrome
Flat occiput, Cutaneous finger syndactyly, Abnormality of epiphysis morphology, Generalized osteo... ORPHA:1306
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Short finger, Short metatarsal, Osteoporosis, Hyp... OMIM:103580
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Choroideremia, Hearing impairment, Chorioretinal degeneration, Inc... OMIM:303110
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168100
Femoral-Facial Syndrome
Micrognathia, Maternal diabetes, Talipes equinovarus, Short stature, Coxa vara, Hip dysplasia, Ab... ORPHA:1988
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Osteoporosis, Congestive heart failure, Failure to thrive OMIM:618234
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Muenke Syndrome
Tarsal synostosis, Plagiocephaly, Cone-shaped epiphysis, Brachycephaly, Sensorineural hearing imp... ORPHA:53271
Ovarian Dysgenesis 1
Osteoporosis, Increased circulating gonadotropin level OMIM:233300
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Short metatarsal, Osteoporosis, Hypogonadism, Sho... OMIM:612462
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Hyperthyroidism, Increased circulating prolactin concentration, Hearing i... OMIM:617675
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Cerebral calc... ORPHA:54595
Acrocephalopolysyndactyly Type Iii
Lower limb undergrowth, Craniosynostosis, Abnormality of the pinna, Oxycephaly, Low-set ears, Pre... OMIM:101120
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... ORPHA:3143
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... ORPHA:3216
Igg4-Related Thyroid Disease
Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Thyrotoxicosis with... ORPHA:64744
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Hypothyroidism, Abnormal cerebral white matter morphology, Hashimoto thyroiditis, Abnorma... ORPHA:83601
Familial Multinodular Goiter
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... ORPHA:276399
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Acrocraniofacial Dysostosis
Triphalangeal thumb, Short 1st metacarpal, Turricephaly, Conductive hearing impairment, Micrognat... ORPHA:949
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Tbck-Related Intellectual Disability Syndrome
2-3 toe syndactyly, Central adrenal insufficiency, Broad finger, Limb undergrowth, Broad toe, Ost... ORPHA:488632
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Femor... OMIM:601559
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Hypertension, Osteolysis involving bones of the lower limbs, Atrioventricular ... ORPHA:371428
Au-Kline Syndrome
Postaxial polydactyly, Craniosynostosis, Hip dysplasia, Microtia, Dolichocephaly, Overlapping toe... OMIM:616580
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
Gorham-Stout Disease
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Osteolysis involv... ORPHA:73
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... ORPHA:101110
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Congenital stationary night blindness,... ORPHA:90646
Jackson-Weiss Syndrome
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Calcaneonavicular fusio... OMIM:123150
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Facial hemangioma, Intercostal retractions ORPHA:137935
Hypophosphatasia, Childhood
Short stature, Bowing of the legs, Craniosynostosis, Frontal bossing, Dolichocephaly OMIM:241510
Summitt Syndrome
Plagiocephaly, Craniosynostosis, Finger syndactyly, Genu valgum, Short palm, Camptodactyly of fin... ORPHA:3210
Craniosynostosis, Elbow ankylosis, Cloverleaf skull OMIM:148800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Failure to thrive, ... OMIM:600081
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Growth delay, Cryptorchidism, Micrognathia, Sagittal craniosynostosis OMIM:218450
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:301033
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Micrognathia, Large fontanelles, Brachycephaly, Bowing of the long bones, Cranios... ORPHA:171839
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular arrhythmia, Atrial fibrillation, A... ORPHA:254892
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Osteopenia ORPHA:397685
Craniofrontonasal Dysplasia
Plagiocephaly, Broad hallux phalanx, Brachycephaly, Craniosynostosis, Congenital pseudoarthrosis ... ORPHA:1520
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Ectopic posterior pi... ORPHA:67045
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Oligodactyly, Craniosynostosis, Absent radius, Forearm undergr... OMIM:251230
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Macrotia, Hyperthyroidism, Diabetes mellitus, Hypothyroidism ORPHA:449291
Mental Retardation, Autosomal Dominant 57
Craniosynostosis, Posteriorly rotated ears, Pes planus, Joint hypermobility, Otitis media OMIM:618050
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints OMIM:608278
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormality of limb bone morphology, Abnormal cortical bone morphology, Splenom... ORPHA:2204
Osteoporosis OMIM:166710
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Congenital Hypothyroidism
Optic atrophy, Goiter, Hearing impairment, Hypogonadism, Abnormality of the thyroid gland, Anteri... ORPHA:442
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Small epiphyses, Proximal femoral epiphysiolysis, Narrow pelvis bone, Craniosynostosis, Skull asy... OMIM:616723
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Cough, Pleuropulmonary blastoma ORPHA:64741
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Cranioectodermal Dysplasia 4
Cutaneous finger syndactyly, Pes valgus, Broad distal phalanx of finger, Sagittal craniosynostosi... OMIM:614378
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Hypoparathyroidism, Generalized bone demineralization, Normocytic anemia, Orth... ORPHA:199299
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Tremor OMIM:300660
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Craniosynostosis, Low-set, posteriorly rotated ears, Split hand ORPHA:2117
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Pes planus, Short ... OMIM:251450
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Long fingers, Arachnodactyly, Reduced bone mineral density, Osteopeni... OMIM:619489
Genetic Transient Congenital Hypothyroidism
Goiter, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thyroid-stimulat... ORPHA:226316
Saethre-Chotzen Syndrome
Hallux valgus, Triphalangeal thumb, Hearing impairment, Finger syndactyly, Delayed cranial suture... ORPHA:794
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Small epiphyses, Insulin-resistant diabetes mellitus, Irregular ca... OMIM:226980
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Craniosynostosis, Recurrent otitis media, Joint contracture of the hand, Clubbing, Hip dislocatio... OMIM:618523
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Transient neonata... ORPHA:99886
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Genu varum, Metaphyseal cupping, Micromelia, Flared iliac w... OMIM:184260
Progressive Pseudorheumatoid Dysplasia
Abnormal foot morphology, Enlargement of the proximal femoral epiphysis, Genu varum, Enlarged epi... OMIM:208230
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Dementia, Cerebellar atrophy, Abnormal cerebellum morphology OMIM:615362
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Morgagni-Stewart-Morel Syndrome
Hypertension, Osteoporosis, Abnormality of the endocrine system, Hyperostosis frontalis interna, ... ORPHA:77296
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Sensorineural hearing impairment, Retinal degeneration OMIM:238340
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Perrault Syndrome 1
Pes cavus, Osteoporosis, Talipes equinovarus, Increased circulating gonadotropin level OMIM:233400
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Neoplasm of the adrenal gland, Astrocytoma, Goiter, Cholangiocarcino... ORPHA:733
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Genu varum, Thin bony cortex, Tibial bowing, Subp... ORPHA:289157
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Tibial bowing, Fibular bowing, Bowing of the legs... OMIM:307800
Cyanosis, Transient Neonatal