Global Variome shared LOVD
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Phenotypes for disease #01160 (ACRDYS1 (acrodysostosis, with/without hormone resistance (ACRDYS-1)), OMIM:101800)
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Diagnosis
: age diagnosis was confirmed
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Stature
: individual has abnormal stature
All options:
yes (<3rd centile)
stature, short (HPO_0004322)
stature, short, asymmetric (HPO_0008929)
stature, short, disproportionate (HPO_0003498)
stature, short, proportionate (HPO_0003508)
stature, short, mesomelic (HPO_0008845)
stature, short, mild (HPO_0003502)
stature, short, moderately (HPO_0008848)
stature, short, severe (HPO_0003510)
stature, tall (HPO_0000098)
stature, tall, proportionate (HPO_0011407)
stature, tall, disproportionate (HPO_0001519)
- = no
? = unknown
n/a = not analysed
Growth
: does the individual have abnormal growth (pre- and post-natal)
All options:
normal = normal growth
abnormal = growth abnormality (HP:0001507)
delayed = delayed (HP:00001510)
overgrowth = overgrowth (HP:0001548)
overgrowth prenatal = prenatal overgrowth (HP:0001548)
overgrowth postnatal = postnatal overgrowth (HP:0001548)
retardation prenatal = prenatal growth retardation (HP:0001511, IUGR)
no retardation prenatal = no prenatal growth retardation (-HP:0001511)
retardation prenatal mild = mild prenatal growth retardation (HP:0008883)
retardation prenatal moderate = moderate prenatal growth retardation (HP:0011408)
retardation prenatal severe = severe prenatal growth retardation (HP:0008846)
retardation postnatal = postnatal growth retardation (HP:0008897)
retardation postnatal mild = mild postnatal growth retardation (HP:0001530)
retardation postnatal moderate = moderate postnatal growth retardation (HP:0008855)
retardation postnatal severe = severe postnatal growth retardation (HP:0008850)
? = unknown
n/a = not analysed
Malformation/Genital
: individual has genital malformations (please specify)
All options:
abnormal = genitourinary abnormalities (HP:0000078)
clitoral hypertrophy (HP:0008665)
cryptorchidism (HP:0000028)
epididymis abnormality (HP:0009714)
epispadias (HP:0000039)
hydronephrosis (HP:0000126)
hypospadias (HP:0000047)
genital external hypoplasia (HP:0003241)
genitalia external female hypoplastic (HP:0012815)
clitoral hypoplasia (HP:0000060)
labial hypoplasia (HP:0000066)
labia majora hypoplasia (HP:0000059)
labia minora hypoplasia (HP:0000064)
genitalia external male hypoplastic (HP:0000050)
penis hypoplasia (HP:0008736)
micropenis (HP:0000054)
microphallus (HP:0030260)
penis torsion (HP:0030263)
scrotal hypoplasia (HP:0000046)
testicular size decreased (HP:0008734)
prostate hypoplastic (HP:0008687)
urethral atresia (HP:0000068)
urethral atresia female (HP:0000067)
urethral atresia male (HP:0000052)
normal = no genitourinary abnormalities (-HP:0000078)
? = unknown
nr = not reported
Thyroid/Dysfunction
: individual has abnormal thyroid function (please specify)
All options:
normal = no thyroid dysfunction (-HP:0002926)
thyroid dysfunction (HP:0002926)
hyperthyrodism (HP:0000836)
hypothyroidism (HP:0000821)
hypothyroidism, central (HP:0011787)
hypothyroidism, compensated (HP:0008223)
hypothyroidism, congenital (HP:0000851)
hypothyroidism, hypothalamic (HP:0008237)
hypothyroidism, pituitary (HP:0008245)
hypothyroidism, primary (HP:0000832)
thyroid agenesis (HP:0011787, congenital)
thyroiditis, Hashimoto (HP:0000872)
? = unknown
nr = not reported
Hearing/Loss
: individual has hearing loss (hearing defect, hearing impairment), please specify
All options:
abnormal = hearing abnormality (HP:0000364)
hearing loss = hearing loss (defect, impairment) (HP:0000365, +)
aminoglycoside-induced = aminoglycoside-induced hearing loss (HP:0011975)
conductive = hearing loss, conductive (HP:0000405)
conductive bilateral = bilateral conductive hearing loss (HP:0008513)
conductive congenital = congenital conductive hearing loss (HP:0008591)
conductive mild = mild conductive hearing loss (HP:0008598)
conductive progressive = progressive conductive hearing loss (HP:0008607)
high frequency = high frequency hearing loss (progressive) (HP:0005101)
high frequency sensorineural = high frequency sensorineural hearing loss (HP:0001757)
low-frequency = low-frequency hearing loss (HP:0008542)
low-frequency sensorineural = low-frequency sensorineural hearing loss (HP:0008573)
mixed = hearing loss, mixed (HP:0000410)
otitis media = otitis media (HP:0000388)
otitis media acute = acute otitis media (HP:0000371)
otitis media chronic = chronic otitis media (HP:0000389)
otitis media recurrent = recurrent otitis media (HP:0000403)
neurosensory mild = mild neurosensory hearing loss (HP:0008587)
progressive = hearing loss, progressive (HP:0001730)
sensorineural = hearing loss, sensorineural (HP:0000407)
sensorineural bilateral = hearing loss, sensorineural, bilateral (HP:0008619)
sensorineural congenital = hearing loss, congenital sensorineural (HP:0008527)
sensorineural childhood onset = childhood onset sensorineural hearing loss (HP:0011474)
sensorineural infantile = infantile sensorineural hearing loss (HP:0008610)
sensorineural late = late sensorineural hearing loss (HP:0008615)
sensorineural moderate = moderate sensorineural hearing loss (HP:0008504)
sensorineural profound = profound sensorineural hearing loss (HP:0011476)
sensorineural severe = severe sensorineural hearing loss (HP:0008625)
sensorineural postlingual = postlingual sensorineural hearing loss (HP:0008596)
sensorineural prelingual = prelingual sensorineural hearing loss (HP:0000399)
sensorineural progressive = hearing loss, progressive sensorineural (HP:0000408)
normal = normal hearing
? = unknown
nr = not reported
Nose/Bridge
: shape nasal bridge (please specify)
All options:
abnormal = abnormality nasal bridge (HP:0000422)
absent = absent nasal bridge (HP:0005285)
broad = broad (wide) nasal bridge (HP:0000431)
flat = flat (depressed/low) nasal bridge (HP:0005280)
high = high (prominent/elevated) nasal bridge (HP:0000426)
hypoplastic = hypoplastic nasal bridge (HP:0005281)
short = short nasal bridge (HP:0003194)
thin = thin (narrow) nasal bridge (HP:0000446)
normal = normal nasal bridge
? = unknown
nr = not reported
Nose/Alae
: individual has abnormal nasal alae (please specify)
All options:
abnormal = abnormal nasal alae (HP:0000429)
normal = normal alae (-HP:0000463)
aplasia = aplastic alae
anteverted = anteverted nares (HP:0000463)
anteverted thin = thin anteverted nares (HP:0004495)
broad = broad nasal tip (HP:0000455)
cartilaginous = cartilaginous ossification nose (HP:0005275)
cleft = cleft alae (HP:0003191)
flared = flared alae (HP:0000454)
flat = flat alae (HP:0010649)
hypoplasia = hypoplastic alae (HP:0000430)
thick = thick alae (HP:0009928)
? = unknown
nr = not reported
Teeth/Anomalies
: individual has anomalies teeth, please specify
All options:
amelogenesis imperfecta = amelogenesis imperfecta (HP:0000705)
cylindric = cylindric shape teeth
delayed = delayed eruption teeth (HP:0000684)
delayed permanent = delayed permanent teeth (HP:0000696)
delayed primary = delayed primary teeth (HP:0000680)
delayed loss = delayed loss primary teeth (HP:0006335)
hypoplasia = hypoplasia teeth (HP:0000685)
hypoplasia enamel = hypoplasia dental enamel (HP:0006297)
hypoplasia enamel general = generalized hypoplasia dental enamel (HP:0006282)
hypoplasia enamel local = localized hypoplasia dental enamel (HP:0011074)
hypoplasia teeth primary = hypoplasia primary teeth (HP:0006334)
hypoplasia tooth germ = hypoplasia tooth germ (HP:0006353)
irregular = irregular teeth (HP:0040079)
small = small teeth (HP:0000691)
spaced abnormal = abnormal spacing teeth (HP:0000692)
spaced variable = variabe spacing teeth (HP:0006316)
spaced wide = widely spaced teeth (HP:0000687)
spaced wide primary = widely spaced primary teeth (HP:0006313)
spaced wide front = widely spaced front teeth (HP:0006304)
yellow-brown = yellow-brown discoloration (HP:0006286)
- = normal teeth
? = unknown
nr = not reported
Scoliosis
: does the individual have scoliosis or kyphoscoliosis (please specify)
All options:
kyphoscoliosis = kyphoscoliosis (HP:0002751)
kyphoscoliosis congenital = kyphoscoliosis, congenital (HP:0008453)
kyphoscoliosis lumbar = kyphoscoliosis, lumbar (HP:0004626)
kyphoscoliosis thoracic = kyphoscoliosis, thoracic (HP:0005659)
kyphoscoliosis thoracolumbar = kyphoscoliosis, thoracolumbar (HP:0003423)
scoliosis = scoliosis (HP:0002650, +)
scoliosis compensatory = scoliosis, compensatory (HP:0100884)
scoliosis congenital progressive = scoliosis, congenital, progressive (HP:0008458)
scoliosis lumbar = scoliosis, lumbar (HP:0004626)
scoliosis thoracic = scoliosis, thoracic (HP:0002943)
scoliosis thoracolumbar = scoliosis, thoracolumbar (HP:0002944)
no = no (kypho)scoliosis
? = unknown
n/a = not analysed
Brachydactyly
: individual has brachydactyly, please specify
All options:
brachydactyly = brachydactyly (HP:000156)
brachytelomesophalangy = brachytelomesophalangy (HP:0005872)
short thumb = short thumb (HP:0009778)
short 5th finger = short 5th finger (HP:0009237)
short toe = short toe (HP:0001831)
short 3rd toe = short 3rd toe (HP:0005643)
brachydactyly-A = brachydactyly, type A (HP:0009370)
brachydactyly-A1 = brachydactyly, type A1 (HP:0009371)
brachydactyly-A2 = brachydactyly, type A2 (HP:0009372)
brachydactyly-B = brachydactyly, type B (HP:0005831
brachydactyly-C = brachydactyly, type C (HP:0009373)
brachydactyly-D = brachydactyly, type D (HP:0005627)
brachydactyly-E = brachydactyly, type E (HP:0005863)
brachydactyly unilateral = brachydactyly, unilateral (HP:0006008)
- = no brachydactyly
? = unknown
n/a = not analysed
Bone/Age
: does the patient have an abnormal bone age (please specify)
All options:
accelerated = accelerated bone age (HP:0002805)
delayed = markedly delayed bone age (HP:0003799, +)
dysharmonic = dysharmonic bone age (HP:0200000)
dysharmonic accelerated = dysharmonic accelerated bone age (HP:0200001)
dysharmonic delayed = dysharmonic delayed bone age (HP:0005832)
maturation accelerated = accelerated skeletal maturation (HP:0005616)
maturation delayed = delayed skeletal maturation (HP:0002750)
- = normal bone age
? = unknown
n/a = not analysed
Teeth/Number
: abnormal number of teeth
All options:
no = no abnormal number teeth (-HP:0006483)
abnormal = abnormal number teeth (HP:0006483)
number incisors = abnormal number incisors (HP:0011064)
number permanent teeth = abnormal number permanent teeth (HP:0011044)
increased = increased number teeth (HP:0011069)
mesiodens = mesiodens (HP:0011067)
supernumerary maxillary incisor = supernumerary maxillary incisor (HP:0006332)
reduced = reduced number teeth (HP:0009804)
single incisor = single median maxillary incisor (HP:0006315)
ageneis tooth selective = selective tooth agenesis (HP:0001592)
agenesis permanent = agenesis permanent teeth (HP:0006349)
agenesis canine = agenesis canine (HP:0012738)
agenesis incisor = agenesis of incisor (HP:0006485)
agenesis molar = agenesis molar (HP:0011051)
agenesis premolar = agenesis premolar (HP:0011054)
hypodontia = hypodontia (HP:0000668)
anodontia = anodontia (HP:0000674)
oligodontia = oligodontia (HP:0000677)
oligodontia primary = oligodontia primary teeth (HP:0012225)
? = unknown
Eye/Orbital
: individual has abnormality orbital region (specify)
All options:
coloboma = coloboma (HP:0000589)
choroidal = choroidal coloboma (HP:0000611)
choroid bilateral = bilateral choroid coloboma (HP:0007956)
choroidoretinal = choroidoretinal coloboma (HP:0000567)
eyelid = eyelid coloboma (HP:0000625)
lower eyelid = lower eyelid coloboma (HP:0000652)
upper eyelid = upper eyelid coloboma (HP:0000636)
irido-fundal = irido-fundal coloboma (HP:0007748)
iris = iris coloboma (HP:0000612)
iris and retina = coloboma of iris and retina (HP:0007744)
lens = lens coloboma (HP:0100719)
macular = macular coloboma (HP:0001116)
ocular = ocular coloboma (HP:0000589)
optic disk (nerve) = optic disk (nerve) coloboma (HP:0000588)
retina = retinal coloboma (HP:0000480)
retinal bilateral = bilateral retinal coloboma (HP:0007808)
globe abnormality (HP:0100886)
cyclopia (HP:0009914)
deeply set eyes (HP:0000490)
hypertelorism (HP:0000316)
hypotelorism (HP:0000601)
proptosis (HP:0000520)
shallow orbits (HP:0000586)
vertical orbital dystopia (HP:0030867)
no = no abnormality
? = unknown
nr = not reported
Protein
: result from protein staining
Head/Skull
: individual has abnormal skull (specify)
All options:
abnormal skull (HP:0000929)
calvaria abnormal (HP:0002683)
calcaria thickened (HP:0002684)
calvaria thin (HP:0010539)
calvarial morphology abnormal
frontal region abnormal shape
frontal bone hypoplasia (HP:0005466)
frontal bossing (HP:0002007)
malar bones abnormal (HP:0012369)
malar flattening (HP:0000272)
malar prominence (HP:0010620)
normal skull (-HP:0000929)
? = unknown
nr = not reported
Calcification
: individual has calcification(s), please specify
All options:
aorta = calcification aorta (HP:0004963)
basal ganglia = calcification basal ganglia (HP:0002135)
brain = brain/intracerebral/intracranial calcification (HP:0002514)
cartilage = calcification cartilage (HP:0100593)
choroid plexus = calcification choroid plexus calcification (HP:0006960)
liver = liver calcification (HP:0006559)
muscle = calcification muscles (HP:0100249)
pancreatic = pancreatic calcification (HP:0005213)
- = no calcifications
? = unknown
n/a = not analysed
Face/Cheeks
: individual has abnormal cheeks (please specify)
All options:
abnormal = abnormality cheeks (HP:0004426)
full = full (chubby/puffy) cheeks (HP:0000293)
prominent = cheekbone prominence (HP:0012370)
sunken = sunken cheeks (HP:0009938)
underdeveloped = cheekbone underdevelopment (HP:0010669)
normal = normal cheeks
? = unknown
nr = not reported
Development
: individual has developmental (psychomotor) delay; please specify (global, cognitive, language/speech, mental, motor, social/emotional)
All options:
global = global developmental delay (+, HP:0001263)
global mild = mild global developmental delay (HP:0011342)
global moderate = moderate global developmental delay (HP:0011343)
global profound = profound global developmental delay (HP:0012736)
global severe = severe global developmental delay (HP:0011344)
motor = motor delay (HP:0001270)
no motor = no motor delay (HP:0001270)
motor fine = delay fine motor development (HP:0010862)
motor gross = delay gross motor development (HP:0002194)
neurodevelopmental = neurodevelopmental delay (HP:0012758)
regression = developmental regression (HP:0002376)
stagnation = developmental stagnation (HP:0007281)
stagnation seizures = developmental stagnation at onset seizures (HP:0006834)
social = delayed social development (HP:0012434)
speech/language = delayed speech/language development (HP:0000750)
no = no developmental delay (-)
? = unknown
n/a = not analysed
Eye/Lens/Cataract
: individual has cataract (please specify)
All options:
cataract = cataract (HP:0000518)
age-related = age-related cataract (HP:0011141)
age-related second/third decade = cataracts develop in second or third decade (HP:0007825)
age-related cortical = age-related cortical cataract (HP:0011143)
age-related nuclear = age-related nuclear cataract (HP:0011142)
age-related posterior subcapsular = age-related posterior subcapsular cataract (HP:0011144)
early = early cataracts (HP:0001113)
juvenile = juvenile cataract (HP:0001118)
juvenile cortical = juvenile cortical cataract (HP:0007876)
juvenile zonulars = juvenile zonular cataracts (HP:0007713)
presenile = presenile cataract (HP:0007819)
progressive = cataract, progressive (HP:0007834)
anterior cortical = anterior cortical cataract (HP:0007795)
anterior polar = anterior polar cataract (HP:0001134)
anterior subcapsular = anterior subcapsular cataract (HP:0010923)
capsular = capsular cataract (HP:0100017)
capsular posterior = posterior capsular cataract (HP:0100020)
cortical pulverulen = cataracts, cortical pulverulen (HP:0007780)
posterior subcapsular iridescent = cataracts, posterior, subcapsular, iridescent (HP:0007889)
cerulean (congenital) = cerulean (congenital) cataract (HP:0007976)
congenital/lenticular (bilateral) = cataract congenital/lenticular (bilateral) (HP:0000519)
coralliform = coralliform cataract (HP:0010921)
cortical = cortical cataract (HP:0100019)
cortical dense posterior = dense posterior cortical cataract (HP:0007948)
cortical posterior = posterior cortical cataract (HP:0010924)
fasciculiform = fasciculiform cataract (frosted, needle-shaped, aculeiform) (HP:0010926)
lamellar (congenital) = lamellar cataract (congenital) (HP:0007971)
lamellar pulverulent = lamellar pulverulent cataract (HP:0010694)
membranous = membranous cataract (HP:0010922)
nonnuclear polymorphic congenital = nonnuclear polymorphic congenital cataract (HP:0007692)
nuclear = nuclear cataract (HP:0100018)
nuclear congenital = congenital nuclear cataract (HP:0008024)
nuclear diffuse = diffuse nuclear cataract (HP:0007657)
nuclear pulverulent = pulverulent nuclear (central) cataract (HP:0010698)
pulverulent = pulverulent cataract (HP:0010693)
nuclear punctate = nuclear punctate cataract (HP:0010925)
nuclear triangular = triangular nuclear cataract (HP:0010699)
polar = polar cataract (HP:0010696)
polar posterior = posterior polar cataract (HP:0001115)
punctate = punctate cataract (HP:0007648)
pyramidal (anterior) = pyramidal (anterior) cataract (HP:0010697)
subcapsula (lenticular) = cataract subcapsula (lenticular) (HP:0000523)
subcapsular posterior = posterior subcapsular cataract (HP:0007787)
sutural = sutural cataract (HP:0010695)
total = total cataract (HP:0010700)
y-sutural posterior = posterior y-sutural cataract (HP:0008031)
zonular = zonular cataract (HP:0010920)
no = no cataract
? = unknown
n/a = not analysed
Eye/Movement
: individual has abnormality in eye movement (please specify)
All options:
abnormal = abnormal eye movement (HP:0000496)
abduction ocular = abnormality of ocular abduction
adduction impaired = impaired ocular adduction
apraxiao culomotor = oculomotor apraxia
fixation = abnormal visual fixation
movement conjugate = abnormal conjugate eye movement
supranuclear gaze palsy = supranuclear gaze palsy
convergence impaired = impaired convergence
cyclodeviation
esodeviation
exodeviation
heterophoria
heterotropia
hypodeviation
hyperdeviation
strabismus = strabismus (HP:0000486)
strabismus alternating = alternating strabismus (HP:0031717)
strabismus congenital = congenital strabismus (HP:0000487)
strabismus comitant = comitant strabismus
strabismus convergent = convergent strabismus (HP:0020054)
strabismus divergent = divergent strabismus (HP:0020045)
strabismus incomitant = incomitant strabismus
strabismus incomitant horizontal = incomitant strabismus horizontal (HP:0020044)
strabismus incomitant vertical = incomitant strabismus vertical (HP:0020043)
strabismus monocular = monocular strabismus (HP:0010877)
strabismus neurogenic = neurogenic strabismus (HP:0032775)
strabismus unilateral = unilateral strabismus (HP:0010877)
esophoria = esophoria
esotropia = esotropia (HP:0000565)
esotropia alternating = alternating esotropia (HP:0001137)
exophoria = exophoria
exotropia = exotropia (HP:0000577)
exotropia congenital = congenital exotropia (HP:0008033)
movements extraocular = limited extraocular movements
movements involuntary = abnormal involuntary eye movements
movements conjugate chaotic = chaotic rapid conjugate ocular movements (HP:0007295)
movements eye paroxysmal = paroxysmal involuntary eye movements (HP:0007704)
movements eye uncontrolled = uncontrolled eye movements (HP:0007738)
opsoclonus = opsoclonus (HP:0010543)
nystagmus = nystagmus (HP:0000639)
nystagmus-induced head nodding = nystagmus-induced head nodding (HP:0001361)
nystagmus congenital = congenital nystagmus (HP:0006934)
nystagmus congenital horizontal = congenital horizontal nystagmus (HP:0007859)
nystagmus divergence = divergence nystagmus (HP:0030691)
nystagmus downbeat = downbeat nystagmus (HP:0010545)
nystagmus gaze-evoked = gaze-evoked nystagmus (HP:0000640)
nystagmus gaze-evoked horizontal = gaze-evoked horizontal nystagmus (HP:0007979)
nystagmus horizontal = horizontal nystagmus (HP:0000666)
nystagmus horizontal jerk = horizontal jerk nystagmus (HP:0007286)
nystagmus horizontal monocular = horizontal monocular nystagmus (HP:0007747)
nystagmus horizontal opticokinetic = horizontal opticokinetic nystagmus (HP:0008026)
nystagmus horizontal pendular = horizontal pendular nystagmus (HP:0007811)
nystagmus pendular = pendular nystagmus (HP:0012043)
nystagmus physiologic = physiologic nystagmus (HP:0012044)
nystagmus rotary = rotary nystagmus (HP:0001583)
nystagmus upbeat = upbeat nystagmus (HP:0011477)
nystagmus vertical = vertical nystagmus (HP:0010544)
nystagmus vestibular = vestibular nystagmus (HP:0010542)
movements saccadic = abnormality of saccadic eye movements
ophthalmoparesis = ophthalmoparesis
pursuit smooth = abnormality of ocular smooth pursuit
compensatory chin elevation
Duane anomaly = Duane anomaly
Marcus Gunn = Marcus Gunn jaw winking synkinesis
visual gaze preference = visual gaze preference
normal = normal eye movement (-HP:0000496)
? = unknown
Face/Shape
: individual's shape of the face
All options:
asymmetric = asymmetric face (HP:0000324)
asymmetric crying = asymmetric crying face (HP:0011333)
broad = broad face (HP:0000283)
dysmorphic = dysmorphic face (HP:0001999)
flat = flat face (HP:0012368)
hypomimic = hypomimic face (HP:0000338)
large = large face (HP:0100729)
long = long face (HP:0000276)
myopatic = myopatic face (HP:0002058)
midface retrusion = midface retrusion (HP:0011800)
narrow = narrow face (HP:0000275)
oval = oval face (HP:0000300)
progeroid = progeroid face (HP:0005328)
prominent forehead = prominent forehead (HP:0011220)
no prominent forehead = no prominent forehead (-HP:0011220)
round = round face (HP:0000311)
short = short face (HP:0011219)
small = small face (HP:0000274
square = square face (HP:0000321)
triangular = triangular face (+ HP:0000325)
normal = normal face
? = unknown
nr = not reported
n/a = not analysed
Facial/Nose
: abnormalities nose, shape (specify)
All options:
abnormality = abnormality nose (+, HP:0000366)
abnormality external = abnormality external nose (+, HP:00010938)
aplasia = aplasia nose (HP:0009927)
aplasia/hypoplasia = aplasia/hypoplasia nose (HP:0009924)
bifid = bifid nose (HP:0011803)
broad tip = broad nasal tip (HP:0000455)
bulbous = bulbous nose (HP:0000414)
large beaked = large beaked nose (HP:0003683)
long = long nose (HP:0003189)
midline defect = midline defect nose (HP:0004122)
narrow = narrow nose (HP:0000460)
normal = normal nose (-)
pear-shaped = pear-shaperd nose (HP:0000447)
prominent = prominent nose (HP:0000448)
short = short nose (HP:0003196)
slender = slender nose (HP:0000417)
wide = wide nose (HP:0000445)
? = unknown
nr = not reported
Hand_Feet/Abnormal
: individual has abnormal hand or feet (specify)
All options:
finger long = long finger
finger long thumb = long thumb
finger long 2nd = long 2nd finger
finger long 3rd = long 3rd finger
finger long 4rd = long 4rd finger
finger long 5th = long 5th finger
finger small = small finger
finger short = short finger (HP:0009381)
finger short thumb = short thumb
finger short 2nd = short 2nd finger
finger short 3rd = short 3rd finger
finger short 4rd = short 4rd finger
finger short 5th = short 5th finger
metacapal short = short metacapal (HP:0010049)
metacapal short 1st = short 1st metacapal
metacapal short 2nd = short 2nd metacapal
metacapal short 3rd = short 3rd metacapal
metacapal short 4rd = short 4rd metacapal
metacapal short 5th = short 5th metacapal
metatarsal short = short metatarsal (HP:0010743)
metatarsal short 1st = short 1st metatarsal
metatarsal short 2nd = short 2nd metatarsal
metatarsal short 3rd = short 3rd metatarsal
metatarsal short 4rd = short 4rd metatarsal
metatarsal short 5th = short 5th metatarsal
toe absent = ansent toe (HP:0010760)
toe long hallux = long hallux (HP:0001847)
toe long 2nd = long 2nd toe
toe long 3rd = long 3rd toe
toe long 4rd = long 4rd toe
toe long 5th = long 5th toe
toe short = short toe (HP:0001831)
toe short hallux = short hallux
toe short 2nd = short 2nd toe
toe short 3rd = short 3rd toe
toe short 4rd = short 4rd toe
toe short 5th = short 5th toe
toe small = small toe (HP:0030031)
normal hand/feet
nr = not reported
Hair/Pigmentation
: individual has abnormal pigmentation hair
All options:
normal = normal pigmentation hair (-HP:0009887)
abnormal = abnormal pigmentation hair (HP:0009887)
albinism = albinism (HP:0001022)
fair = fair hair (HP:0002286)
hypopigmentation = hypopigmentation (HP:0005599)
hypopigmentation general = general hypopigmentation (HP:0011358)
hypopigmentation patchy = patchy hypopigmentation (HP:0011365)
poliosis = poliosis (HP:0002290)
graying = premature graying (HP:0002216)
red = red hair (HP:0002297)
silver-gray = silver-gray hair (HP:0002218)
white = white hair (HP:0011364)
white forlock = white forlock (HP:0002211)
? = unknown
nr = not reported
Hormone
: individual has hormone abnormality (specify)
All options:
ACTH+ = adrenocorticotropic hormone excess (HP:0011749)
ACTH- = adrenocorticotropic hormone deficiency (HP:0011748)
CRH- = corticotropin-releasing hormone deficiency (HP:0011737)
FSH+ = high follicle stimulating hormone (HP:0008232)
FSH- = low follicle stimulating hormone (HP:0030341)
GH+ = growth hormone excess (HP:0000845)
GH- = growth hormone deficiency (HP:0000824)
GNRH = hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
LH+ = high luteinizing hormone (HP:0011969)
LH- = low luteinizing hormone (HP:0030344)
PTH+c = high circulating parathyroid hormone (HP:0003165)
PTH+ = high parathyroid hormone, hyperparathyroidism (HP:0000843)
PTH- = low parathyroid hormone, hypoparathyroidism (HP:0000829)
PTHp = pseudohypoparathyroidism (HP:0000852)
TSH+ = thyroid-stimulating hormone excess (HP:0002925)
TSH- = TSH deficiency, pituitary hypothyroidism (HP:0008245)
TH resistance = pituitary resistance to thyroid hormone (HP:0008227)
- = normal
? = unknown
n/a = not analysed
Calcium
: individual has abnormal calcium homeostasis (blood and/or urine)
All options:
hypercalcemia = hypercalcemia (HP:0003072)
hypercalcemia infantile = infantile hypercalcemia (HP:0008250)
hypercalciuria = hypercalciuria (HP:0002150)
hypercalcemia = hypercalcemia (HP:0003072)
hypocalcemia = hypocalcemia (HP:0002901)
hypocalcemic seizures = hypocalcemic seizures (HP:0002199)
hypocalcemic tetany = hypocalcemic tetany (HP:0003472)
hypocalciuria = hypocalciuria (HP:0003127)
reduced calcium/creatinine clearance = reduced ratio renal calcium/creatinine clearance (HP:0003513)
wasting = renal calcium wasting (HP:0012637)
- = normal calcium homeostasis
? = unknown
n/a = not analysed
Intellectual_dis
: individual has intellectual disability (intellectual disability (mental retardation), HP:0001249,mental retardation); please specify
All options:
yes = intellectual disability (HP:0001249, IQ below 70)
borderline = intellectual disability, borderline (HP:0006889, IQ 70-79)
mild = intellectual disability, mild (HP:0001256, IQ 50-69)
moderate = intellectual disability, moderate (HP:0002342, IQ 35-49)
profound = intellectual disability, profound (HP:0002187, IQ below 20)
severe = intellectual disability, severe (HP:0010864, IQ 20-34)
progressive = intellectual disability, progressive (HP:0006887)
no = no intellectual disability (IQ above 79, -)
? = unknown
n/a = not analysed
Ion_Homeostasis
: individual has abnormal ion homeostasis, please specify
All options:
cation = abnormal cation homeostasis (HP:0010929)
chloride = abnormal chloride homeostasis (HP:0011422)
hyperchloremia = hyperchloremia (HP:0011423)
hypochloremia = hypochloremia (HP:0003113)
sweat chloride = elevated sweat chloride (HP:0012236)
phosphate = abnormal phosphate homeostasis (HP:0100529)
hyperphosphatemia = hyperphosphatemia (HP:0002905)
hypophosphatemia = hypophosphatemia (HP:0002148)
hypophosphatemia renal= renal hypophosphatemia (HP:0008732)
hypophosphatemic rickets = hypophosphatemic rickets (HP:0004912)
hypophosphatemia transient= transient hypophosphatemia (HP:0008285)
plasma pyrophosphate = elevated plasma pyrophosphate (HP:0011864)
- = normal calcium homeostasis
? = unknown
n/a = not analysed
Neck
: individual has abnormality neck
All options:
abnormality = abnormality neck (HP:0000464)
broad = broad neck (HP:0000475)
long = long neck (HP:0000472)
short = short neck (HP:0000470)
webbed = webbed neck (HP:0000465)
redundant skin = redundant neck skin (HP:0005989)
abnormality musculature = abnormality musculature neck (HP:0011006)
flexion limited = limited neck flexion (HP:0005991)
flexor weakness = flexor muscle weakness (HP:0003722)
limited range of motion = limited neck range of motion (HP:0000466)
motion limited = limitation of neck motion (HP:0005986)
muscle hypoplasia = neck muscle hypoplasia (HP:0008984)
muscle weakness = neck muscle weakness (HP:0000467)
adipose tissue decreased = decreased adipose tissue around neck (HP:0005995)
adipose tissue increased = increased adipose tissue around neck (HP:0000468)
normal = normal neck
? = unknown
n/a = not analysed
Weight
: individual has abnormal weight (specify)
All options:
abnormal = abnormal body weight (HP:0004323)
decreased = decreased body weight (HP:0004325)
increased = increased body weight (HP:0004324)
BMI abnormal = abnormal BMI (HP:0045081)
BMI decreased = decreased BMI (HP:0045082)
BMI increased = increased BMI (HP:0031418)
obesity = obesity (HP:0001513)
abdominal = obesity, abdominal (HP:0012743)
truncal = obesity, truncal (HP:0001956)
truncal childhood = obesity, truncal, childhood-onset (HP:0008915)
overweight = overweight (HP:0025502)
- = no obesity (-HP:0001513)
? = unknown
nr = not reported
Ossification/Ectopic
: individual has ossification, please specify
All options:
ectopic = ectopic ossification (HP:0011986)
ectopic ligament = ectopic ossification, ligament tissue (HP:0011989)
ectopic muscle = ectopic ossification, muscle tissue (HP:0011987)
ectopic tendon = ectopic ossification, tendon tissue (HP:0011988)
- = absent
? = unknown
n/a = not analysed
Bone/Density
: individual has abnormal bone density, please specify
All options:
normal = normal bone mineral density
abnormal = abnormal bone mineral density (HP:0004348)
reduced = reduced bone mineral density (HP:0004349)
generalized demineralization = generalized bone demineralization (HP:0006462)
osteomalacia = osteomalacia (HP:0002749)
osteopenia = osteopenia (HP:0000938)
osteoporosis = osteoporosis (HP:0000939)
patchy reduced = patchy reduction bone mineral density (HP:0010657)
patchy variation = patchy variation bone mineral density (HP:0010659)
rickets = rickets (HP:0002748)
hypophosphatemic rickets = hypophosphatemic rickets (HP:0004912)
rickets lower limbs = rickets lower limbs (HP:0006463)
? = unknown
nr = not reported
Puberty
: individual has precocious (early) or delayed puberty
All options:
+ = puberty, precocious (HP:0000826)
menstrual irregularities (HP:0000858)
abnormality menstrual cycle (HP:0000140)
amenorrhea (HP:0000141)
amenorrhea, primary (HP:0000786)
amenorrhea, secondary (HP:0000869)
delayed menarche (HP:0012569)
menometrorrhagia (HP:0400008)
menorrhagia (HP:0000132)
metrorrhagia (HP:0100608)
oligomenorrhea (HP:0000876)
polymenorrhea (HP:0400007)
dysmenorrhea (HP:0100607)
puberty, delayed (HP:0000823)
puberty, precocious (HP:0000826)
puberty, precocious, female (HP:0010456)
puberty, precocious, male (HP:0008185)
puberty, precocious, isosexual (HP:0008236)
puberty, precocious, with Sertoli cell tumor (HP:0008204)
- = normal onset puberty
? = unknown
nr = not reported
Reproduction/Abnormal/Physiology
: individual has abnormality reproductive system physiology (please specify)
All options:
abnormal = abnormality reproductive system physiology (HP:0000080)
abnormality female = abnormality female reproductive system physiology (HP:0030012)
dysfunction sexual female = female sexual dysfunction (HP:0030014)
anorgasmia female = female anorgasmia (HP:0030015)
dyspareunia = dyspareunia (HP:0030016)
vaginismus = vaginismus (HP:0030017)
libido decreased female = decreased female libido (HP:0030018)
libido increased female = increased female libido (HP:0030019)
endometriosis = endometriosis (HP:0030127)
endometriosis cervical= cervical endometriosis (HP:0012889)
abnormality male = abnormality male reproductive system physiology (HP:0012874)
abnormality genitalia internal male = abnormality male internal genitalia (HP:0000025
dysfunction = male sexual dysfunction (HP:0040307)
libido decreased male = decreased male libido (HP:0040306)
libido increased male = increased male libido (HP:0040305)
anorgasmia male = male anorgasmia (HP:0040308)
ejaculation abnormal = abnormal ejaculation (HP:0012875)
ejaculation premature = premature ejaculation (HP:0012876)
ejaculation retrograde = retrograde ejaculation (HP:0012877)
ejaculation retarded = retarded ejaculation (HP:0012878)
anejaculation = anejaculation (HP:0012879)
impotence = impotence (HP:0000802)
fertility decreased = decreased fertility (HP:0000144)
fertility decreased female = decreased female fertility (HP:0000868)
fertility decreased male = decreased male fertility (HP:0012041)
infertility = infertility (HP:0000789)
infertility female = female infertility (HP:0008222)
infertility male = male infertility (HP:0003251)
hypogonadism = hypogonadism (HP:0000135)
hypogonadism male = male hypogonadism (HP:0000026)
hypogonadism hypogonadotrophic = hypogonadotrophic hypogonadism (HP:0000044)
hypogonadism female = female hypogonadism (HP:0000134)
hypogonadism hypergonadotropic = hypergonadotropic hypogonadism (HP:0000815)
normal = no abnormality (-HP:0000080)
? = unknown
nr = not reported
Testis/Abnormal
: individual has abnormality testis, please specify
All options:
abnormal = abnormality testis (HP:0000035)
aplasia = aplasia testes (HP:0010469)
aplasia/hypoplasia = aplasia/hypoplasia testes (HP:0010468)
atrophy = testicular atrophy (HP:0000029)
cryptorchidism = cryptorchidism (HP:0000028)
cryptorchidism bilateral = bilateral cryptorchidism (HP:0008689)
cryptorchidism unilateral = unilateral cryptorchidism (HP:0012741)
dysgenesis = testicular dysgenesis (HP:0008715)
dysplastic = dysplastic testes (HP:0008733)
failure primary = primary testicular failure (HP:0008720)
hydrocele = hydrocele testis (HP:0000034)
Leydig cells abnormal = Leydig cells (HP:0010789)
Leydig cells hyperplasia = Leydig cells (HP:0010791)
Leydig cells hypoplasia = Leydig cells (HP:0010790)
macroorchidism = macroorchidism (HP:0000053)
macroorchidism congenital = congenital macroorchidism (HP:0008640)
macroorchidism postpubertal = postpubertal macroorchidism (HP:0002050)
microlithiasis = testicular microlithiasis (HP:0012215)
orchitis = orchitis (HP:0100796)
size decreased = decreased testicular size (HP:0008734)
supernumerary = supernumerary testes (HP:0010470)
torsion = testicular torsion (HP:0100813)
normal = normal testis
? = unknown
nr = not reported
Vitamin
: individual has vitamin abnormality, please specify
All options:
vitamin metabolism = abnormal vitamin metabolism
vitamin A = vitamin A deficiency (HP:0004905)
vitamin A metabolism = abnormal vitamin A metabolism
vitamin B metabolism = abnormal vitamin-B metabolism
vitamin B1 = vitamin B1 deficiency (HP:0100503)
vitamin B12 = vitamin B12 deficiency (HP:0100502)
vitamin B12 metabolism = abnormal vitamin B12 metabolism
vitamin B2 = vitamin B2 deficiency (HP:0100504)
vitamin B3 = vitamin B3 deficiency (HP:0100497)
vitamin B3 metabolism = abnormal vitamin B3 metabolism
vitamin B5 = vitamin B5 deficiency (HP:0100505)
vitamin B6 = vitamin B6 deficiency (HP:0008326)
vitamin B8 = vitamin B8 deficiency (HP:0100506)
vitamin C = vitamin C deficiency (HP:0100510)
vitamin C metabolism = abnormal vitamin C metabolism
vitamin D = vitamin D deficiency (HP:0100512)
vitamin D metabolism = abnormal vitamin D metabolism
vitamin E = vitamin E deficiency (HP:0100513)
vitamin E metabolism = abnormal vitamin E metabolism
vitamin K = vitamin K deficiency (HP:0011892)
vitamin K metabolism = abnormal vitamin K metabolism
- = normal vitamin
? = unknown
n/a = not analysed
How to query this table
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Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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Text
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!
Text
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^
Text
^p.(Arg
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$
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=""
Text
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Text
="p.0"
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Text
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
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all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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33 entries on 1 page. Showing entries 1 - 33.
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Legend
How to query
Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Stature
Growth
Malformation/Genital
Thyroid/Dysfunction
Hearing/Loss
Nose/Bridge
Nose/Alae
Teeth/Anomalies
Scoliosis
Brachydactyly
Bone/Age
Teeth/Number
Eye/Orbital
Protein
Head/Skull
Calcification
Face/Cheeks
Development
Eye/Lens/Cataract
Eye/Movement
Face/Shape
Facial/Nose
Hand_Feet/Abnormal
Hair/Pigmentation
Hormone
Calcium
Intellectual_dis
Ion_Homeostasis
Neck
Weight
Ossification/Ectopic
Bone/Density
Puberty
Reproduction/Abnormal/Physiology
Testis/Abnormal
Vitamin
Owner
Individual ID
0000059623
hypospadias
-
-
Unknown
-
11y
-
-
-
-
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Francesca Marta Elli
00079987
0000059624
advanced bone age, caeliac disease, glucose intolerance with insulin resistance, severe peripheral dysostosis
-
-
Familial, autosomal dominant
-
08y
-
fmelli
-
-
-
-
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Francesca Marta Elli
00079988
0000059625
IUGR, neonatal hypoglycemia, enamel dysplasia
-
-
Unknown
-
32y
-
-
-
-
-
-
-
-
-
-
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-
Francesca Marta Elli
00079989
0000059626
IUGR, neonatal hypoglycemia, gastroesophageal reflux, dysmorphic spines
-
-
Unknown
-
10y
-
-
-
-
-
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-
Francesca Marta Elli
00079990
0000059712
PTH resistance, TSH resistance, short stature, brachydactily, mental retardation, cone-shaped epiphyses, short neck, cafè-au-lait spots
-
-
Unknown
-
15y
-
fmelli
-
-
-
-
-
-
-
-
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Francesca Marta Elli
00080137
0000059714
short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, sensorineural hearing loss, short neck
-
-
Unknown
-
31y
-
-
-
-
-
-
-
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-
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Francesca Marta Elli
00080149
0000059715
TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, cone-shaped epiphyses
-
-
Unknown
-
11y
-
-
-
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Francesca Marta Elli
00080150
0000059716
PTH resistance, short stature, brachydactily, cone-shaped epiphyses, FSH resistance
-
-
Unknown
-
31y
-
-
-
-
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Francesca Marta Elli
00080151
0000059717
PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, IUGR, cone-shaped epiphyses
-
-
Unknown
-
3,10y
-
-
-
-
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Francesca Marta Elli
00080152
0000059719
PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily
-
-
Unknown
-
12y
-
-
-
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Francesca Marta Elli
00080154
0000059726
TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation
-
-
Unknown
-
3,9y
-
-
-
-
-
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-
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Francesca Marta Elli
00080161
0000059727
PTH resistance, short stature, brachydactily, cone-shaped epiphyses
-
-
Unknown
-
26y
-
-
-
-
-
-
-
-
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Francesca Marta Elli
00080162
0000059728
PTH resistance, TSH resistance, brachydactily, cone-shaped epiphyses
-
-
Unknown
-
08y
-
-
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Francesca Marta Elli
00080163
0000059729
PTH resistance3, Tsh resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses
-
-
Unknown
-
13y
-
-
-
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-
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Francesca Marta Elli
00080164
0000059730
PTH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses
-
-
Unknown
-
34y
-
-
-
-
-
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Francesca Marta Elli
00080165
0000059731
PTH resistance, TSH resistance, short stature, brachydactily, IUGR, cone-shaped epiphyses
-
-
Unknown
-
22y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080166
0000059732
short stature, dysmorphic facies, brachydactily, mental retardation, moderate mixed hearing loss, congenital hypothyroidism, unilateral undescended testis
-
-
Unknown
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080167
0000059733
short stature, dysmorphic facies, brachydactily, mental retardation
-
-
Unknown
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080168
0000059739
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, IUGR, cone-shaped epiphyses, advanced bone age
-
-
Unknown
-
03y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080174
0000059740
PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, +1digit
-
-
Unknown
-
14y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080175
0000059741
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily
-
-
Unknown
-
24y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080176
0000059743
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance
-
-
Unknown
-
20,4y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080179
0000059744
PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advaned bone age
-
-
Unknown
-
05y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080180
0000060263
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA
-
-
Unknown
-
24y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080691
0000060264
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance
-
-
Unknown
-
16y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080692
0000060265
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age
-
-
Unknown
-
11y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080693
0000060266
PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, FSH resistance
-
-
Unknown
-
26y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080694
0000060267
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance
-
-
Unknown
-
13y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080695
0000060268
PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, FSH resistance
-
-
Unknown
-
4,5y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080696
0000060269
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA
-
-
Unknown
-
11y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080697
0000060270
PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, SGA
-
-
Unknown
-
8,6y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080698
0000060271
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, SGA
-
-
Unknown
-
12,6y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Francesca Marta Elli
00080699
0000104275
-
-
-
Familial, autosomal dominant
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Karina Silveira
00132070
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